Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R216S
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MITF

NM_000248.4:p.R216S

Associated Papers

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

Zardadi S et al.

Bmc Pediatrics, 2021

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

Cortés-González V et al.

American Journal of Medical Genetics. Part A, 2016

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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."