Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L234P
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SHH

NM_000193.4:p.L234P

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

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

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.

Liu J et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.

Hong S et al.

Human Mutation, 2020

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."