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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCYL2

Variant:p.S240A

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SCYL2

NM_017988.6:p.S240A

hg38:chr12:100312519 T>G

Associated Papers

Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature.

Zamel K et al.

International Journal of Molecular Sciences, 2025

40243816 (PubMed )

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Malbos M et al.

Clinical Genetics, 2024

39169672 (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."