Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.D1957N
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PKHD1

NM_138694.4:p.D1957N

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

Wang Y et al.

Genes, 2023

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.

Huang R et al.

Human Genetics, 2023

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

Li H et al.

Journal of Clinical Medicine, 2023

Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.

Qiu LR et al.

Current Medical Science, 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."