Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.Q2588*
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COL7A1

NM_000094.4:p.Q2588*

Associated Papers

Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes.

Tella S et al.

Indian Journal of Dermatology, 0

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