Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.T416A
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SHH

NM_000193.4:p.T416A

Associated Papers

Frequency of Specific Genes in Different Types of Epilepsy.

Duzkale N et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Roessler E et al.

Human Mutation, 2009

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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."