Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.L239Q
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CDH23

NM_022124.6:p.L239Q

Associated Papers

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Shadab M et al.

Journal of Cellular and Molecular Medicine, 2024

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.

Noman M et al.

Molecular Biology Reports, 2020

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Anwar S et al.

Journal of Human Genetics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."