Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.Q1398*
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PKHD1

NM_138694.4:p.Q1398*

Associated Papers

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.

Qian C et al.

Medicine, 2024

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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."