Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.E109insFs
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COL7A1

NM_000094.4:p.E109insFs

Associated Papers

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

Cuadrado-Corrales N et al.

Bmc Medical Genetics, 2010

Dystrophic epidermolysis bullosa.

ROCHA G

Anais Brasileiros De Dermatologia E Sifilografia, 1945

[A case of dystrophic bullous epidermolysis with severe hypertrichosis].

COFANO AR

Annali Italiani Di Dermatologia E Sifilografia, 0

[Macular (Mendes da Costa) type of dystrophic epidermolysis bullosa].

SPAGNOLI U et al.

Rassegna Di Dermatologia E Di Sifilografia, 0

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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."