Varaico: Literature-Extracted Genetic Variants

Gene:POLD4
Variant:p.P36L
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POLD4

NM_021173.5:p.P36L

Associated Papers

Genetic polymorphisms for the study of multifactorial stroke.

Bersano A et al.

Human Mutation, 2008

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C et al.

Journal of the American Society of Nephrology : Jasn, 2003

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Onuchic LF et al.

American Journal of Human Genetics, 2002

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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."