Varaico: Literature-Extracted Genetic Variants

Gene:KRT83
Variant:p.G69S
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KRT83

NM_002282.3:p.G69S

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Tan M et al.

International Journal of Molecular Medicine, 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."