Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.K1177N
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MYO7A

NM_000260.4:p.K1177N

Associated Papers

Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.

Wee K et al.

Scientific Reports, 2025

40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
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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."