Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.S1018S
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DYSF

NM_001130987.2:p.S1018S

Associated Papers

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Arias-Pérez RD et al.

Bmc Medical Genomics, 2021

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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."