| Property | Value |
|---|
| Working Groups |  RG Moser |
| Subproject | RA1.2 |
| Open Access |  Yes |
| Publication Type | Journal Article |
| Peer Reviewed | Yes |
| PMID |  35278131 |
| DOI |  10.1007/s00439-022-02444-x |
| Publication Year | 2022 |
| Title | Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene  |
| Journal | Human Genetics |
| ISSN | 0340-6717 |
| eISSN | 1432-1203 |
| URL | http://dx.doi.org/10.1007/s00439-022-02444-x |
| Journal Abbreviation | Hum Genet |
| Authors | Pater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young T |
| First Author | Pater JA |
| Last Author | Young T |
| Scholia |  Wikidata-based representation at Scholia |
External Resources
link.spr...-x.pdfhttps://link.springer.com/content/pdf/10.1007/s00439-022-02444-x.pdf
Article fulltext
gro-2/105609http://resolver.sub.uni-goettingen.de/purl?gro-2/105609
GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
NCBI taxonomy (human, Homo sapiens)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447
ORCID identifier (Barbara Vona)
1/291https://mbexc.uni-goettingen.de/archive/1/291
Research Data Archive (supplemental material)
05xy1nn52https://ror.org/05xy1nn52
ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
CVCL_0063https://scicrunch.org/resolver/CVCL_0063
SciCrunch identifier (RRID:CVCL_0063, HEK293T)
SCR_006442https://scicrunch.org/resolver/SCR_006442
SciCrunch identifier (RRID:SCR_006442, Bioconductor)
SCR_013036https://scicrunch.org/resolver/SCR_013036
SciCrunch identifier (RRID:SCR_013036, cn.mops)
SCR_001876https://scicrunch.org/resolver/SCR_001876
SciCrunch identifier (RRID:SCR_001876, GATK)
SCR_014290https://scicrunch.org/resolver/SCR_014290
SciCrunch identifier (RRID:SCR_014290, GeneMapper)
SCR_005181https://scicrunch.org/resolver/SCR_005181
SciCrunch identifier (RRID:SCR_005181, Human Splicing Finder)
SCR_003253https://scicrunch.org/resolver/SCR_003253
SciCrunch identifier (RRID:SCR_003253, LUMPY)
SCR_001247https://scicrunch.org/resolver/SCR_001247
SciCrunch identifier (RRID:SCR_001247, Mutation Surveyor)
SCR_021830https://scicrunch.org/resolver/SCR_021830
SciCrunch identifier (RRID:SCR_021830, Maxent)
SCR_005191https://scicrunch.org/resolver/SCR_005191
SciCrunch identifier (RRID:SCR_005191, SnpEff)
SCR_013360https://scicrunch.org/resolver/SCR_013360
SciCrunch identifier (RRID:SCR_013360, Superlink)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1007%2Fs00439-022-02444-x/MediaObjects/439_2022_2444_MOESM1_ESM.pdf
Supplemental material
goeseek.gwdguser.de/studies/95https://goeseek.gwdguser.de/studies/95
Supplemental material (goeseek study)
Q114960546https://www.wikidata.org/wiki/Q114960546
Wikidata ID
