Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.N2915S
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PKD1

NM_001009944.3:p.N2915S

Associated Papers

Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Wang JY et al.

Frontiers in Molecular Neuroscience, 2022

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

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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."