Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.M1059T
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HEPHL1

NM_001098672.2:p.M1059T

Associated Papers

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

Sharma P et al.

Plos Genetics, 2019

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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."