| Property |
Value |
| Working Groups |
RG Vona |
| Subproject |
A03 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
40377830 |
| DOI |
10.1007/s40291-025-00782-w |
| Publication Year |
2025 |
| Title |
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population |
| Journal |
Molecular Diagnosis & Therapy |
| ISSN |
1177-1062 |
| eISSN |
1179-2000 |
| URL |
https://doi.org/10.1007/s40291-025-00782-w |
| Pages |
519-537 |
| Issue |
4 |
| Volume |
29 |
| Journal Abbreviation |
Mol Diagn Ther |
| Authors |
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang M, Zhang Z, Mohammad R, Houlden H, Kim H, Vona B |
| First Author |
Shadab M |
| Last Author |
Vona B |
External Resources
link.spr...-w.pdfhttps://link.springer.com/content/pdf/10.1007/s40291-025-00782-w.pdf Article fulltext
gro-2/149609http://resolver.sub.uni-goettingen.de/purl?gro-2%2F149609= GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
0009-0009-6043-6811https://orcid.org/0009-0009-6043-6811 ORCID identifier (Madiha Shadab)
0000-0003-3520-8015https://orcid.org/0000-0003-3520-8015 ORCID identifier (Afif Ben-Mahmoud)
0009-0001-7609-4790https://orcid.org/0009-0001-7609-4790 ORCID identifier (Luis Nicolás Martínez Völter)
0000-0002-8140-0756https://orcid.org/0000-0002-8140-0756 ORCID identifier (Ansar Ahmed Abbasi)
0000-0003-1784-8975https://orcid.org/0000-0003-1784-8975 ORCID identifier (Bonsu Ku)
0000-0002-9679-6327https://orcid.org/0000-0002-9679-6327 ORCID identifier (Raja Ahsan Ejaz)
0000-0002-3613-6378https://orcid.org/0000-0002-3613-6378 ORCID identifier (Vijay Gupta)
0000-0003-4497-4686https://orcid.org/0000-0003-4497-4686 ORCID identifier (Hyung-Goo Kim)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
02f99v835https://ror.org/02f99v835 ROR identifier (02f99v835, German Primate Center)
SCR_023662https://scicrunch.org/resolver/SCR_023662 SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)
SCR_000598https://scicrunch.org/resolver/SCR_000598 SciCrunch identifier (RRID:SCR_000598, Chromas)
SCR_006169https://scicrunch.org/resolver/SCR_006169 SciCrunch identifier (RRID:SCR_006169, ClinVar)
SCR_018393https://scicrunch.org/resolver/SCR_018393 SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)
SCR_014964https://scicrunch.org/resolver/SCR_014964 SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)
SCR_000563https://scicrunch.org/resolver/SCR_000563 SciCrunch identifier (RRID:SCR_000563, GERP)
SCR_016386https://scicrunch.org/resolver/SCR_016386 SciCrunch identifier (RRID:SCR_016386, Illumina HiSeq 3000/HiSeq 4000 System)
SCR_010777https://scicrunch.org/resolver/SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)
SCR_006437https://scicrunch.org/resolver/SCR_006437 SciCrunch identifier (RRID:SCR_006437, OMIM)
SCR_013189https://scicrunch.org/resolver/SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)
SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)
static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1007%2Fs40291-025-00782-w/MediaObjects/40291_2025_782_MOESM1_ESM.pdf Supplemental material