Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.S2983L
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PKHD1

NM_138694.4:p.S2983L

Associated Papers

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM et al.

Journal of Medical Genetics, 2005

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Furu L et al.

Journal of the American Society of Nephrology : Jasn, 2003

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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."