Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.S112*
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SHH

NM_000193.4:p.S112*

Associated Papers

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

de Castro VF et al.

Molecular Syndromology, 2021

Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.

Nagai-Tanima M et al.

Human Mutation, 2020

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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."