Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E130*
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SHH

NM_000193.4:p.E130*

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

Hedgehog-GLI mediated control of renal formation and malformation.

Greenberg D et al.

Frontiers in Nephrology, 2023

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Mercier S et al.

Journal of Medical Genetics, 2011

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

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.

Bendavid C et al.

Human Mutation, 2009

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E et al.

The Journal of Biological Chemistry, 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."