Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.G2931Splc
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PKD1

NM_001009944.3:p.G2931Splc

Associated Papers

PKD1 Splice and PKD2 Nonsense Variants Identified in Two Chinese Families With Autosomal Dominant Polycystic Kidney Disease.

Li Z et al.

Nephrology (carlton, Vic.), 2025

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )
Supplement: sfae356_supplemental_file.pdf
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