Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R215H
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RET

NM_020975.6:p.R215H

Associated Papers

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.

Yamaguchi-Kabata Y et al.

Journal of Human Genetics, 2018

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA et al.

Endocrine-related Cancer, 2015

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.

Sun C et al.

Human Molecular Genetics, 2011

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