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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCLT1

Variant:p.M406I

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SCLT1

NM_144643.4:p.M406I

hg38:chr4:128952769 C>A

Associated Papers

Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.

Morisada N et al.

Cen Case Reports, 2020

32253632 (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."