Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.C1038Y
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PTCH1

NM_000264.5:p.C1038Y

Associated Papers

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Valenzuela-Palomo A et al.

The Journal of Pathology, 2022

34846068 (PubMed )
Supplement: PATH-256-321-s001.zip › path5839-sup-TablesS1-S11.docx

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Lopez-Perolio I et al.

Journal of Medical Genetics, 2019

30890586 (PubMed )
Supplement: jmedgenet-2018-105834supp004.docx
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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."