Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.N3175D
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PKHD1

NM_138694.4:p.N3175D

Associated Papers

Parsing disease-relevant protein modifications from epiphenomena: perspective on the structural basis of SOD1-mediated ALS.

Schmitt ND et al.

Journal of Mass Spectrometry : Jms, 2017

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Human Mutation, 2004

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."