Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.R1230C
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MYO7A

NM_000260.4:p.R1230C

Associated Papers

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778464 (PubMed )
Supplement: media-1.xlsx › Table_2

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
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