Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRA
Variant:p.G79D
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PDGFRA

NM_006206.6:p.G79D

Associated Papers

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

Chan-Pak-Choon F et al.

The Journal of Pathology, 2025

40879644 (PubMed )
Supplement: PATH-267-241-s002.xlsx › Table_S1

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_after_120d_TISF

Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.

Sánchez-Guixé M et al.

Cancer Discovery, 2024

38501975 (PubMed )
Supplement: EMS194327-supplement-Table_S1.pdf

Generation and multi-dimensional profiling of a childhood cancer cell line atlas defines new therapeutic opportunities.

Sun CX et al.

Cancer Cell, 2023

Characterization of Philadelphia-like Pre-B Acute Lymphoblastic Leukemia: Experiences in Mexican Pediatric Patients.

Martínez-Anaya D et al.

International Journal of Molecular Sciences, 2022

36076986 (PubMed )
Supplement: ijms-23-09587-s001.zip › ijms-1818043-supplementary.pdf

Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Buccoliero AM et al.

Genes, 2022

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Metzenmacher M et al.

Translational Oncology, 2022

34800919 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Valentini V et al.

Frontiers in Oncology, 2022

36686738 (PubMed )
Supplement: Table_3.xlsx › Foglio1

Acquired Cystic Kidney Disease-associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes.

Shah A et al.

The American Journal of Surgical Pathology, 2020

Results of Liquid Biopsy Studies by Next Generation Sequencing in Patients with Advanced Stage Non-small Cell Lung Cancer: Single Center Experience from Turkey.

Buyuksimsek M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s7.xlsx › TP_Polymorphisms

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Ishida M et al.

Clinical Genetics, 2018

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits

Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition.

Sanmartín E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28830922 (PubMed )
Supplement: 10780432ccr170593-sup-179482_3_supp_4200607_ddbcdd.xlsx › Cell_lines

Variant call concordance between two laboratory-developed, solid tumor targeted genomic profiling assays using distinct workflows and sequencing instruments.

Hampel KJ et al.

Experimental and Molecular Pathology, 2017

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

Karyadi DM et al.

Oncotarget, 2017

27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1

Characterization of DNA variants in the human kinome in breast cancer.

Agarwal D et al.

Scientific Reports, 2015

26420498 (PubMed )
Supplement: srep14736-s3.xls › HFI_Unique

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

Amplification of chromosomal segment 4q12 in non-small cell lung cancer.

Ramos AH et al.

Cancer Biology & Therapy, 2009

The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature.

Munteanu O et al.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 0

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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."