Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P1801S
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PKD1

NM_001009944.3:p.P1801S

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

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Wei X et al.

Plos One, 2011

22216297 (PubMed )
Supplement: pone.0029500.s005.xlsx › Sheet1
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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."