Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.E346Q
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PTCH2

NM_003738.5:p.E346Q

Associated Papers

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN et al.

Npj Genomic Medicine, 2020

32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf

Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population.

Lesiak A et al.

Archives of Dermatological 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."