Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.F1479fs
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PKHD1

NM_138694.4:p.F1479fs

Associated Papers

Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Hu HY et al.

Journal of Cellular and Molecular Medicine, 2021

Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.

Qi Q et al.

Genes, 2020

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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."