Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.V33L
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BSND

NM_057176.3:p.V33L

Associated Papers

Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.

Yun Y et al.

International Journal of Molecular Sciences, 2023

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact.

Tan H et al.

Frontiers in Physiology, 2017

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique S et al.

Plos One, 2014

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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."