Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L834V
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PTCH1

NM_000264.5:p.L834V

Associated Papers

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

Aubert-Mucca M et al.

European Journal of Human Genetics : Ejhg, 2021

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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."