Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.V751G
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PTCH1

NM_000264.5:p.V751G

Associated Papers

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.

Richieri-Costa A et al.

Journal of Pediatric Genetics, 2017

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

Ribeiro LA et al.

American Journal of Medical Genetics. Part A, 2006

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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."