Varaico: Literature-Extracted Genetic Variants

Gene:PRDM9
Variant:p.S814R
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PRDM9

NM_020227.4:p.S814R

Associated Papers

Whole exome sequencing and proteomics-based investigation of the pathogenesis of coronary artery disease with diffuse long lesion.

Chao C et al.

Journal of Cardiothoracic Surgery, 2024

Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM).

Mill CP et al.

Blood Cancer Journal, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM7_ESM.xlsx › SNV

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Chelleri C et al.

Human Mutation, 2023

40225171 (PubMed )
Supplement: 3160653.f1.zip › Table_S1.pdf

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Mutational Pattern in Multiple Pulmonary Nodules Are Associated With Early Stage Lung Adenocarcinoma.

Dong SW et al.

Frontiers in Oncology, 2020

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data

Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia.

Irie S et al.

Journal of Andrology, 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."