Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.S827N
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PTCH1

NM_000264.5:p.S827N

Associated Papers

Clinical and mutational profiles of adult medulloblastoma groups.

Wong GC et al.

Acta Neuropathologica Communications, 2020

33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Fang X et al.

Journal of Cellular and Molecular Medicine, 2020

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
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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."