Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.A436V
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PTCH2

NM_003738.5:p.A436V

Associated Papers

Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.

Guan L et al.

European Journal of Medical Research, 2026

41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s006.xlsx › Sheet1

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Untranslated regions (UTRs) are a potential novel source of neoantigens for personalised immunotherapy.

Sng CCT et al.

Frontiers in Immunology, 2024

38558815 (PubMed )
Supplement: Table_1.xlsx › S1_b

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.

Smith MJ et al.

Familial Cancer, 2022

Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins.

Juhari WKW et al.

Genes, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1
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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."