Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.S3505R
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PKHD1

NM_138694.4:p.S3505R

Associated Papers

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Gezgin Y et al.

Turkish Journal of Medical Sciences, 2024

Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors-Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?

Alen BO et al.

Cancers, 2022

35884384 (PubMed )
Supplement: cancers-14-03323-s001.zip › SUPPLEMENTARY_MATERIAL.xlsx › S6

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.

Suzuki T et al.

Neuroscience Letters, 2006

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM et al.

Journal of Medical Genetics, 2005

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Kidney International, 2005

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C et al.

Human Mutation, 2004

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."