Varaico: Literature-Extracted Genetic Variants

Gene:CRYM
Variant:p.*315Y
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CRYM

NM_001376256.1:p.*315Y

Associated Papers

Systematic Assessment of Protein C-Termini Mutated in Human Disorders.

FitzHugh ZT et al.

Biomolecules, 2023

µ-Crystallin: A thyroid hormone binding protein.

Kinney CJ et al.

Endocrine Regulations, 2021

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

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Gene screening facilitates diagnosis of complicated symptoms: A case report.

Duan H et al.

Molecular Medicine Reports, 2017

Reciprocal Control of Thyroid Binding and the Pipecolate Pathway in the Brain.

Hallen A et al.

Neurochemical Research, 2017

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Abou Tayoun AN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

27627659 (PubMed )
Supplement: pone.0162230.s001.xlsx › table_S1

Crystal structure of mouse mu-crystallin complexed with NADPH and the T3 thyroid hormone.

Borel F et al.

The Febs Journal, 2014

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S et al.

Plos One, 2012

Genetics of crystallins: cataract and beyond.

Graw J

Experimental Eye Research, 2009

mu-crystallin, a NADPH-dependent T(3)-binding protein in cytosol.

Suzuki S et al.

Trends in Endocrinology and Metabolism: Tem, 2007

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

Abe S et al.

Genetic Testing, 2007

CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea.

Oshima A et al.

Journal of Medical Genetics, 2006

Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.

Abe S et al.

American Journal of Human Genetics, 2003

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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."