Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S421F
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PTCH1

NM_000264.5:p.S421F

Associated Papers

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Chirita-Emandi A et al.

Scientific Reports, 2020

31937788 (PubMed )
Supplement: 41598_2019_57080_MOESM2_ESM.xlsx › candidate_variants
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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."