Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.N1285Y
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DST

NM_001374736.1:p.N1285Y

Associated Papers

Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.

Ganani D et al.

Pediatric Dermatology, 2021

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules.

Turcan I et al.

The Journal of Investigative Dermatology, 2017

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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."