Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.Y1295*
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PKHD1

NM_138694.4:p.Y1295*

Associated Papers

[Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].

Gao S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."