Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.P1389T
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PKHD1

NM_138694.4:p.P1389T

Associated Papers

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.

Martin J et al.

Fertility and Sterility, 2015

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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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."