Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.I388T
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ERVFRD-1

NM_207582.3:p.I388T

Associated Papers

Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.

Yagi S et al.

The Journal of Dermatology, 2023

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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."