Varaico: Literature-Extracted Genetic Variants

Gene:QRICH2
Variant:p.G634S
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QRICH2

NM_001388453.1:p.G634S

Associated Papers

Multiple Pulmonary Sclerosing Pneumocytomas (PSPs): A Comprehensive Analysis of Clinicopathological Characteristics and Whole-exome Sequencing (WES) Results.

Wan Y et al.

The American Journal of Surgical Pathology, 2025

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.

Wang T et al.

Clinical Case Reports, 2024

38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP

A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries.

Su S et al.

Frontiers in Cardiovascular Medicine, 2022

35872895 (PubMed )
Supplement: Table_2.xlsx › Sheet3

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1

2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Wang Y et al.

Bmc Bioinformatics, 2021

34090332 (PubMed )
Supplement: 12859_2021_4185_MOESM3_ESM.xlsx › Table_S2

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

Whole Exome Sequencing of Multiple Atypical Meningiomas in a Patient without History of Neurofibromatosis Type II: A Case Report.

Lyu J et al.

The American Journal of Case Reports, 2020

Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.

Jiao J et al.

Journal of Molecular Neuroscience : Mn, 2020

31838722 (PubMed )
Supplement: 12031_2019_1456_MOESM2_ESM.xlsx › Data_S2

Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.

Zhang W et al.

Cancer Medicine, 2019

30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11
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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."