Varaico: Literature-Extracted Genetic Variants

Gene:DSC1
Variant:p.N516S
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DSC1

NM_024421.2:p.N516S

Associated Papers

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M et al.

Annals of Human Genetics, 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."