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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 38031187
DOIDOI 10.1186/s13073-023-01258-4
Publication Year2023
TitleEvaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
JournalGenome Medicine
ISSN1756-994X
URL http://dx.doi.org/10.1186/s13073-023-01258-4
Issue1
Volume15
Journal AbbreviationGenome Med
AuthorsLin S, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK
First AuthorLin S
Last AuthorVarshney GK

 External Resources

 211909  Addgene identifier (211909)

 211910  Addgene identifier (211910)

 212010  Addgene identifier (212010, reused)

 genomeme...-4.pdf  Article fulltext

 0000839738  LOVD identifier (0000839738)

 0000839739  LOVD identifier (0000839739)

 0000839740  LOVD identifier (0000839740)

 0000839741  LOVD identifier (0000839741)

 0000839742  LOVD identifier (0000839742)

 0000839743  LOVD identifier (0000839743)

 0000839744  LOVD identifier (0000839744)

 0000839745  LOVD identifier (0000839745)

 0000839746  LOVD identifier (0000839746)

 0000839747  LOVD identifier (0000839747)

 0000839748  LOVD identifier (0000839748)

 0000839749  LOVD identifier (0000839749)

 0000936556  LOVD identifier (0000936556)

 0000936559  LOVD identifier (0000936559)

 0000936561  LOVD identifier (0000936561)

 0000936563  LOVD identifier (0000936563)

 0000936565  LOVD identifier (0000936565)

 0000936567  LOVD identifier (0000936567)

 0000936569  LOVD identifier (0000936569)

 0000936572  LOVD identifier (0000936572)

 0000936574  LOVD identifier (0000936574)

 0000936576  LOVD identifier (0000936576)

 0000936578  LOVD identifier (0000936578)

 0000936585  LOVD identifier (0000936585)

 0000936587  LOVD identifier (0000936587)

 NM_002541  NCBI nucleotide (NM_002541, reused)

 NM_018245  NCBI nucleotide (NM_018245, reused)

 9606  NCBI taxonomy (human, Homo sapiens)

 7955  NCBI taxonomy (zebrafish, Danio rerio)

 0000-0002-7559-6529  ORCID identifier (Sheng-Jia Lin)

 0000-0002-6719-3447  ORCID identifier (Barbara Vona)

 0000-0003-0514-1729  ORCID identifier (Tracy Lau)

 0000-0001-7840-0002  ORCID identifier (Maha S. Zaki)

 0000-0003-3233-5529  ORCID identifier (Clarissa Rocca)

 0000-0003-2289-8950  ORCID identifier (Mahmoud M. Noureldeen)

 0000-0002-9379-2400  ORCID identifier (Cassidy Petree)

 0000-0002-5406-0776  ORCID identifier (Tobias Bartolomaeus)

 0000-0002-1542-1399  ORCID identifier (Rami Abou Jamra)

 0000-0001-5567-8300  ORCID identifier (Giovanni Zifarelli)

 0000-0002-2619-7775  ORCID identifier (Pratishtha Varshney)

 0000-0003-0533-5320  ORCID identifier (Mohammad Hasan Mohammadi)

 0000-0002-0569-1117  ORCID identifier (Mehran Beiraghi Toosi)

 0000-0002-6126-6078  ORCID identifier (Cordula Knopp)

 0000-0002-5642-8378  ORCID identifier (Ingo Kurth)

 0000-0002-2906-0635  ORCID identifier (Thomas D. Challman)

 0000-0002-0737-0763  ORCID identifier (Thomas Haaf)

 0000-0002-2732-4043  ORCID identifier (Andrés Moreno De Luca)

 0000-0002-2866-7777  ORCID identifier (Henry Houlden)

 0000-0002-0429-1904  ORCID identifier (Gaurav K. Varshney)

 7WGR  RCSB PDB Identifier (DOI:10.2210/pdb7WGR/pdb, reused)

 05pn4yv70  ROR identifier (05pn4yv70, Beni-Suef University)

 03ccx3r49  ROR identifier (03ccx3r49, Centogene (Germany))

 03czfpz43  ROR identifier (03czfpz43, Emory University)

 03j9npf54  ROR identifier (03j9npf54, Geisinger Medical Center)

 03vek6s52  ROR identifier (03vek6s52, Harvard University)

 04a9tmd77  ROR identifier (04a9tmd77, Icahn School of Medicine at Mount Sinai)

 04sfka033  ROR identifier (04sfka033, Mashhad University of Medical Sciences)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 02n85j827  ROR identifier (02n85j827, National Research Centre)

 035z6xf33  ROR identifier (035z6xf33, Oklahoma Medical Research Foundation)

 02y72wh86  ROR identifier (02y72wh86, Queen's University)

 04xfq0f34  ROR identifier (04xfq0f34, RWTH Aachen University)

 044g6d731  ROR identifier (044g6d731, Savitribai Phule Pune University)

 02jx3x895  ROR identifier (02jx3x895, University College London)

 028hv5492  ROR identifier (028hv5492, University Hospital Leipzig)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 04cw6st05  ROR identifier (04cw6st05, University of London)

 01ee9ar58  ROR identifier (01ee9ar58, University of Nottingham)

 03a1kwz48  ROR identifier (03a1kwz48, University of Tübingen)

 00fbnyb24  ROR identifier (00fbnyb24, University of Würzburg)

 037tr0b92  ROR identifier (037tr0b92, Zabol University of Medical Sciences)

 SCR_023662  SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)

 SCR_000441  SciCrunch identifier (RRID:SCR_000441, EthoVision XT)

 SCR_002798  SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

 SCR_016137  SciCrunch identifier (RRID:SCR_016137, Microsoft Excel)

 SCR_018063  SciCrunch identifier (RRID:SCR_018063, Zeiss LSM 710 Confocal Inverted Microscope)

 ndownloa...353486  Supplemental material

 Q9ULD0  UniProt identifier (Q9ULD0, reused)

 mbexc.de...neity/  Website entry (mbexc.de)