Varaico: Literature-Extracted Genetic Variants

Gene:TIMM8A
Variant:p.S57C
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TIMM8A

NM_004085.4:p.S57C

Associated Papers

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.

Feng H et al.

Orphanet Journal of Rare Diseases, 2024

Dimers of D76N-β2-microglobulin display potent antiamyloid aggregation activity.

Maya-Martinez R et al.

The Journal of Biological Chemistry, 2022

36328246 (PubMed )
Supplement: mmc1.docx
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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."