Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.F83delFs
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PTCH1

NM_000264.5:p.F83delFs

Associated Papers

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Lavillaureix A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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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."