Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF12
Variant:p.C477Y
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PRAMEF12

NM_001080830.5:p.C477Y

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iWT2_2

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Whole genome sequencing and rare variant analysis in essential tremor families.

Odgerel Z et al.

Plos One, 2019

Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab.

Cho J et al.

Molecular Cancer, 2014

24894453 (PubMed )
Supplement: 1476-4598-13-141-S3.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."