Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.K142R
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AICDA

NM_020661.4:p.K142R

Associated Papers

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.

Gardella R et al.

Human Mutation, 1999

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).

Järvikallio A et al.

Human Mutation, 1997

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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."