Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.N3586fs
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PKHD1

NM_138694.4:p.N3586fs

Associated Papers

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Liu Y et al.

Human Genome Variation, 2023

37217505 (PubMed )
Supplement: 41439_2023_238_MOESM1_ESM.xlsx › Sheet1

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.

Li H et al.

Journal of Clinical Medicine, 2023

36835961 (PubMed )
Supplement: jcm-12-01428-s001.zip › Figure_S1.pdf

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Gao M et al.

Frontiers in 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."