Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.G219G
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PKHD1

NM_138694.4:p.G219G

Associated Papers

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Rossetti S et al.

Kidney International, 2003

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