Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.S3210C
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PKHD1

NM_138694.4:p.S3210C

Associated Papers

Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.

Ishigami D et al.

European Journal of Human Genetics : Ejhg, 2026

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing - a case report.

Valtcheva N et al.

Bmc Cancer, 2017

28103826 (PubMed )
Supplement: 12885_2017_3054_MOESM1_ESM.xlsx › EmCa_caseI_run1

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Audrézet MP et al.

Journal of the American Society of Nephrology : Jasn, 2016

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S2
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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."