Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E126_G127del1
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SHH

NM_000193.4:p.E126_G127del1

Associated Papers

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Wannasilp N et al.

American Journal of Medical Genetics. Part A, 2011

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Keaton AA et al.

Molecular Syndromology, 2010

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."