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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT14

Variant:p.G277G

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KRT14

NM_000526.5:p.G277G

hg38:chr17:41583856 G>A

Associated Papers

Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14.

Misaki M et al.

The Journal of Dermatology, 2024

38362638 (PubMed )

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