Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.D147N
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SHH

NM_000193.4:p.D147N

Associated Papers

Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.

Guyodo H et al.

Clinical and Experimental Dental Research, 2024

38558491 (PubMed )
Supplement: CRE2-10-e861-s001.pdf

Gain-of-function Shh mutants activate Smo cell-autonomously independent of Ptch1/2 function.

Casillas C et al.

Mechanisms of Development, 2018

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.

Levy R et al.

Human Mutation, 2011

21898656 (PubMed )
Supplement: supplement_1.pdf

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 signaling in basal cell carcinomas.

Daya-Grosjean L et al.

Cancer Letters, 2005

The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors.

Daya-Grosjean L et al.

Mutation Research, 2005

Functional analysis of novel sonic hedgehog gene mutations identified in basal cell carcinomas from xeroderma pigmentosum patients.

Couvé-Privat S et al.

Cancer Research, 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."