Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.N1494delFs
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PKHD1

NM_138694.4:p.N1494delFs

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )
Supplement: sfae356_supplemental_file.pdf

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.

Hu P et al.

American Journal of Obstetrics and Gynecology, 2023

[Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing].

Qiao F et al.

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

Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.

Zhou X et al.

Journal of Clinical Laboratory Analysis, 2020

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

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S et al.

European Journal of Human Genetics : Ejhg, 2019

30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
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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."