Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.Q78*
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MITF

NM_001354604.2:p.Q78*

Associated Papers

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx
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