Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L9L
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SHH

NM_000193.4:p.L9L

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

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

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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."