Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.R68fs
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SHH

NM_000193.4:p.R68fs

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

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C et al.

Human Mutation, 2016

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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."