Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.P347L
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SHH

NM_000193.4:p.P347L

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

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

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

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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."