Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.Q764delFs
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SMO

NM_005631.5:p.Q764delFs

Associated Papers

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

Javed Khan M et al.

Molecular Syndromology, 2024

A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases.

Rubino S et al.

Journal of Neurosurgery. Pediatrics, 2019

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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."