Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.G27A
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SHH

NM_000193.4:p.G27A

Associated Papers

Identification of N-terminal residues of Sonic Hedgehog important for palmitoylation by Hedgehog acyltransferase.

Hardy RY et al.

The Journal of Biological Chemistry, 2012

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

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Singh S et al.

Human Genetics, 2009

Single median maxillary central incisor: new data and mutation review.

El-Jaick KB et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2007

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

Hehr U et al.

European Journal of Pediatrics, 2004

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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."