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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 35815345
DOIDOI 10.1002/humu.24435
Publication Year2022
TitleBiallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
JournalHuman Mutation
ISSN1059-7794
eISSN1098-1004
URL http://dx.doi.org/10.1002/humu.24435
Journal AbbreviationHum Mutat
AuthorsLin S, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon M, Rüschendorf F, Kong I, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim H, Varshney GK
First AuthorLin S
Last AuthorVarshney GK

 External Resources

 onlineli...d=true  Article fulltext

 gro-2/113144  GRO.publications identifier

 6239  NCBI taxonomy (C. elegans, Caenorhabditis elegans)

 9606  NCBI taxonomy (human, Homo sapiens)

 10090  NCBI taxonomy (mouse, Mus musculus)

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

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

 0000-0001-5037-1473  ORCID identifier (Saadullah Khan)

 1/103  Research Data Archive (supplemental material)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

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

 SCR_017001  SciCrunch identifier (RRID:SCR_017001, Allen Brain Atlas)

 SCR_006169  SciCrunch identifier (RRID:SCR_006169, ClinVar)

 SCR_018393  SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion (CADD))

 SCR_015935  SciCrunch identifier (RRID:SCR_015935, CRISPOR)

 SCR_017467  SciCrunch identifier (RRID:SCR_017467, gEAR)

 SCR_014964  SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)

 SCR_010802  SciCrunch identifier (RRID:SCR_010802, GensearchNGS)

 SCR_001888  SciCrunch identifier (RRID:SCR_001888, HGMD)

 SCR_005181  SciCrunch identifier (RRID:SCR_005181, Human Splicing Finder)

 SCR_003070  SciCrunch identifier (RRID:SCR_003070, ImageJ)

 SCR_011793  SciCrunch identifier (RRID:SCR_011793, Integrative Genomics Viewer)

 SCR_014627  SciCrunch identifier (RRID:SCR_014627, I-TASSER)

 SCR_006566  SciCrunch identifier (RRID:SCR_006566, LOVD)

 SCR_016707  SciCrunch identifier (RRID:SCR_016707, MaxEntScan)

 SCR_010777  SciCrunch identifier (RRID:SCR_010777, MutationTaster)

 SCR_013189  SciCrunch identifier (RRID:SCR_013189, PolyPhen)

 SCR_000305  SciCrunch identifier (RRID:SCR_000305, PyMOL)

 SCR_012813  SciCrunch identifier (RRID:SCR_012813, SIFT)

 onlineli...L.docx  Supplemental material

 onlineli...2.xlsx  Supplemental material (table)

 onlineli...1.xlsx  Supplemental material (table)

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