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Article

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.

Journal of human genetics - 1 Dec 2021

Adadey Samuel M, Schrauwen Isabelle, Aboagye Elvis Twumasi, Bharadwaj Thashi, Esoh Kevin K, Basit Sulman, Acharya Anushree, Nouel-Saied Liz M, Liaqat Khurram, Wonkam-Tingang Edmond, Mowla Shaheen, Awandare Gordon A, Ahmad Wasim, Leal Suzanne M, Wonkam Ambroise

Abstract excerpt

Congenital hearing impairment (HI) is genetically heterogeneous making its genetic diagnosis challenging. Investigation of novel HI genes and variants will enhance our understanding of the molecular mechanisms and to aid genetic diagnosis. We performed exome sequencing and analysis using DNA samples from affected members of two large families from Ghana and Pakistan, segregating autosomal-dominant (AD)...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34226616
DOI: 10.1038/s10038-021-00954-6
PMCID: PMC8612923

Genes

SLC12A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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