Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.T164T
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CNNM4

NM_020184.4:p.T164T

Associated Papers

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Parveen A et al.

Molecular Genetics & Genomic Medicine, 2019

Features, genetics and their correlation in Jalili syndrome: a systematic review.

Daneshmandpour Y et al.

Journal of Medical Genetics, 2019

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

Rahimi-Aliabadi S et al.

Eye (london, England), 2016

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