Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.I899V
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PTCH1

NM_000264.5:p.I899V

Associated Papers

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J et al.

Human Genetics, 2019

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N et al.

Genome Research, 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."