Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.E405_V406Splc
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PTCH1

NM_000264.5:p.E405_V406Splc

Associated Papers

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H et al.

Human Molecular Genetics, 2000

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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."