Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R347H
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RECQL4

NM_004260.4:p.R347H

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_

Next-generation sequencing of homologous recombination genes could predict efficacy of platinum-based chemotherapy in non-small cell lung cancer.

Zhang L et al.

Frontiers in Oncology, 2022

36591485 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_Table_4

SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas.

Manotas MC et al.

Frontiers in Genetics, 2022

Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.

Luo R et al.

Npj Breast Cancer, 2021

34075047 (PubMed )
Supplement: 41523_2021_278_MOESM2_ESM.xlsx › Supplementary_Data_1

Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation.

Fujita H et al.

Aging Cell, 2020

33094908 (PubMed )
Supplement: ACEL-19-e13251-s001.pdf
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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."