Varaico: Literature-Extracted Genetic Variants

Gene:SH3D19
Variant:p.F166insFs
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SH3D19

NM_001378122.1:p.F166insFs

Associated Papers

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Yang CS et al.

Pediatric Dermatology, 0

22515571 (PubMed )
Supplement: pde0029-0725-sd1.pdf
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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."