Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L847P
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PKD1

NM_001009944.3:p.L847P

Associated Papers

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

Sierks D et al.

Jhep Reports : Innovation in Hepatology, 2022

36246085 (PubMed )
Supplement: mmc1.pdf
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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."