Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.S216*
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MITF

NM_001354604.2:p.S216*

Associated Papers

De novo variants are a common cause of genetic hearing loss.

Klimara MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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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."