Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.V1287G
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PKHD1

NM_138694.4:p.V1287G

Associated Papers

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8

Application of whole exome sequencing in carrier screening for high-risk families without probands.

Huang Q et al.

Frontiers in Genetics, 2024

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s012.xlsx › ______

[Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].

Wu Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."