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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT1

Variant:p.V176_K177del0

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KRT1

NM_006121.4:p.V176_K177del0

hg38:chr12:52679817 ACTTCAC>A

Associated Papers

Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.

Severino-Freire M et al.

Acta Dermato-venereologica, 2017

27722766 (PubMed )

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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."