Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.C2300fs
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PKD1

NM_001009944.3:p.C2300fs

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Fetal hyperechoic kidney cohort study and a meta-analysis.

Yang W et al.

Frontiers in Genetics, 2023

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