Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.E46G
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CPA1

NM_001868.4:p.E46G

Associated Papers

Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis.

Sándor M et al.

Gut, 2024

The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.

Hirai S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2023

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.

Ono R et al.

Cancer Science, 2021

33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1
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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."