Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.E218G
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PKHD1

NM_138694.4:p.E218G

Associated Papers

Polymorphisms in the transcription factor NRF2 and forearm vasodilator responses in humans.

Marczak ED et al.

Pharmacogenetics and Genomics, 2012

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.

Lo YF et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.

Michel-Calemard L et al.

Clinical Genetics, 2009

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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."