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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCML1

Variant:p.S205delFs

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SCML1

NM_001037540.3:p.S205delFs

hg38:chrX:17750203 TC>T

Associated Papers

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M et al.

Human Molecular Genetics, 2009

19414485 (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."