Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P1940L
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COL7A1

NM_000094.4:p.P1940L

Associated Papers

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Mariath LM et al.

Clinical Genetics, 2021

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Mariath LM et al.

Clinical Genetics, 2019

Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.

Heinecke G et al.

Pediatric Dermatology, 2017

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Varki R et al.

Journal of Medical Genetics, 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."