Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Y472Y
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SMO

NM_005631.5:p.Y472Y

Associated Papers

A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly.

Javed Khan M et al.

Molecular Syndromology, 2024

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

Green TE et al.

European Journal of Human Genetics : Ejhg, 2022

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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."