Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L1287P
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PKD1

NM_001009944.3:p.L1287P

Associated Papers

Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.

Arora V et al.

European Journal of Medical Genetics, 2020

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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."