Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.I111N
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SHH

NM_000193.4:p.I111N

Associated Papers

Structural basis for catalyzed assembly of the Sonic hedgehog-Patched1 signaling complex.

Huang P et al.

Developmental Cell, 2022

Molecular analysis of holoprosencephaly in South America.

Savastano CP et al.

Genetics and Molecular Biology, 2014

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

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."