Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.K4001_A4002Splc
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PKD1

NM_001009944.3:p.K4001_A4002Splc

Associated Papers

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

Fundamental insights into autosomal dominant polycystic kidney disease from human-based cell models.

Weydert C et al.

Pediatric Nephrology (berlin, Germany), 2019

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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."