Varaico: Literature-Extracted Genetic Variants

Gene:KRT74
Variant:p.D482N
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KRT74

NM_175053.4:p.D482N

Associated Papers

Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method.

Rosenberg GM et al.

Pnas Nexus, 2023

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 2015

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Raykova D et al.

Plos One, 2014

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Wasif N et al.

Human Genetics, 2011

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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."