Varaico: Literature-Extracted Genetic Variants

Gene:PTPN13
Variant:p.V1531I
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PTPN13

NM_080683.3:p.V1531I

Associated Papers

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

Chen Y et al.

Frontiers in Medicine, 2022

36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

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
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