Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.L341F
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MITF

NM_000248.4:p.L341F

Associated Papers

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.

Thongpradit S et al.

Scientific Reports, 2020

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.

Sun Y et al.

Bmc Medical Genomics, 2019

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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."