Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R711Q
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SMC1A

NM_006306.4:p.R711Q

Associated Papers

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S3

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S2

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable3

Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Ishikawa T et al.

Iscience, 2023

37207275 (PubMed )
Supplement: mmc12.xlsx › Sheet1

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

36671709 (PubMed )
Supplement: biology-12-00013-s001.zip › biology-2072813-supplementary.xlsx › Suppl_tbl_Vaf

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.

Panarotto M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Latorre-Pellicer A et al.

International Journal of Molecular Sciences, 2020

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.

Chinen Y et al.

Human Genome Variation, 2019

31098032 (PubMed )
Supplement: 41439_2019_53_MOESM1_ESM.xlsx › Sheet1

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S et al.

American Journal of Medical Genetics. Part A, 2017

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Lebrun N et al.

American Journal of Medical Genetics. Part A, 2015

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

Mannini L et al.

American Journal of Medical Genetics. Part A, 2012

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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."