Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.Q361*
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PTCH2

NM_003738.5:p.Q361*

Associated Papers

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi M et al.

Human Genome Variation, 2019

30820324 (PubMed )
Supplement: 41439_2019_41_MOESM1_ESM.xlsx › gnomad_ENSG00000117425_2018_06_
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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."