Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.M1T
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HR

NM_005144.5:p.M1T

Associated Papers

Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers.

Maatough A et al.

Journal of Cellular Biochemistry, 2018

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.

Wen Y et al.

Nature Genetics, 2009

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.

Neerman-Arbez M et al.

Human Mutation, 2007

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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."