Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L2793V
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PKD1

NM_001009944.3:p.L2793V

Associated Papers

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

35778421 (PubMed )
Supplement: 41525_2022_309_MOESM1_ESM.pdf

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Guan B et al.

Frontiers in Oncology, 2022

35372080 (PubMed )
Supplement: Table_6.xlsx › table_S6
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