Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.I300V
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MITF

NM_000248.4:p.I300V

Associated Papers

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.

Bertani-Torres W et al.

Audiology Research, 2023

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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."