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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DST

Variant:p.S2388delFs

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DST

NM_001723.7:p.S2388delFs

hg38:chr6:56616304 GA>G

Associated Papers

Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies.

Pironon N et al.

Acta Dermato-venereologica, 2024

39670436 (PubMed )

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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."