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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT1

Variant:p.E180G

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KRT1

NM_006121.4:p.E180G

hg38:chr12:52679810 T>C

Associated Papers

Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis.

Sashikawa M et al.

The Journal of Dermatology, 2021

34486163 (PubMed )

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