Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.L354I
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MITF

NM_000248.4:p.L354I

Associated Papers

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

Yang S et al.

Molecular Genetics & Genomic Medicine, 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Wang L et al.

Molecular Medicine Reports, 2018

Microphthalmia-associated transcription factor polymorphisms and association with bone mineral density of the proximal femur in postmenopausal women.

Koh JM et al.

Molecules and Cells, 2007

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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."