Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.A919T
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RECQL4

NM_004260.4:p.A919T

Associated Papers

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_

Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.

Pérez-Ibave DC et al.

Genes, 2023

36833268 (PubMed )
Supplement: genes-14-00341-s001.zip › Table_S1.xlsx › Hoja1

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

López-Rodríguez R et al.

Scientific Reports, 2022

35725860 (PubMed )
Supplement: 41598_2022_14035_MOESM3_ESM.xlsx › Hoja1

Thyroid Follicular Cell-derived Carcinomas in a Background of Multiple Adenomatous Nodules Leading to a Diagnosis of PTEN Hamartoma Tumor Syndrome in an Adult Patient With a Novel RECQL4 Mutation.

Liu A et al.

Anticancer Research, 2022

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Yin L et al.

Jama Network Open, 2022

35171259 (PubMed )
Supplement: jamanetwopen-e2148721-s001.pdf

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert J et al.

Breast Cancer Research : Bcr, 2018

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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."