Varaico: Literature-Extracted Genetic Variants

Gene:PABPC3
Variant:p.R287G
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PABPC3

NM_030979.3:p.R287G

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_2__manuscript_supplementary_material_.xlsx › Variant_details

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.

Takeichi T et al.

Frontiers in Immunology, 2021

35046931 (PubMed )
Supplement: DataSheet_1.pdf

Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Ke L et al.

Frontiers in Molecular Biosciences, 2021

35118119 (PubMed )
Supplement: Table3.xlsx › sheet_1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro.

Cai X et al.

Journal of Ovarian Research, 2020

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Jiang P et al.

Frontiers in Genetics, 2019

31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

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

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S13_CC-3_coding_SNVs

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › gtl16_f40r3
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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."