Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A2
Variant:p.P988S
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SLC12A2

NM_001046.3:p.P988S

Associated Papers

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

Ludin K et al.

American Journal of Medical Genetics. Part A, 2025

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.

Hasenahuer MA et al.

Journal of Molecular Biology, 2023

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

Vanniya S P et al.

Annals of Human Genetics, 2022

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