Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.Q888*
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RECQL4

NM_004260.4:p.Q888*

Associated Papers

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Thibaud S et al.

Blood Cancer Discovery, 2024

39283238 (PubMed )
Supplement: bcd-23-0208_supplementary_table_2_suppst2.xlsx › Supplementary_Table_2

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Dangoni GD et al.

Pediatric Research, 2024

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S et al.

Human Genome Variation, 2021

33452237 (PubMed )
Supplement: 41439_2020_133_MOESM1_ESM.xlsx › Sheet1

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.

Carlo MI et al.

Jama Oncology, 2018

Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.

Cao DH et al.

Genetics and Molecular Research : Gmr, 2015

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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."