Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.V3193I
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PKHD1

NM_138694.4:p.V3193I

Associated Papers

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Wong TN et al.

Nature, 2015

25487151 (PubMed )
Supplement: NIHMS635306-supplement-5.xlsx › taml.extension.all.tier1.2013.0

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM et al.

Journal of Medical Genetics, 2005

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Kidney International, 2005

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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."