Varaico: Literature-Extracted Genetic Variants

Gene:CRYM
Variant:p.Y247Y
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CRYM

NM_001376256.1:p.Y247Y

Associated Papers

Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.

Wang M et al.

Experimental and Therapeutic Medicine, 2020

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Khalil A et al.

Bmc Medical Genetics, 2020

31898538 (PubMed )
Supplement: 12881_2019_942_MOESM2_ESM.xls › suppTbale1

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH11T2
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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."