Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R711G
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SMC1A

NM_006306.4:p.R711G

Associated Papers

Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.

Tague LK et al.

Jci Insight, 2023

36853803 (PubMed )
Supplement: jciinsight-8-165609-s144.pdf

Towards a Better Understanding of Cohesin Mutations in AML.

Cuartero S et al.

Frontiers in Oncology, 2019

Cohesin Mutations in Cancer.

De Koninck M et al.

Cold Spring Harbor Perspectives in Medicine, 2016

Leukemia-Associated Cohesin Mutants Dominantly Enforce Stem Cell Programs and Impair Human Hematopoietic Progenitor Differentiation.

Mazumdar C et al.

Cell Stem Cell, 2015

Leukemogenic Activity of Cohesin Rings True.

Williams MS et al.

Cell Stem Cell, 2015

Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia.

Jan M et al.

Science Translational Medicine, 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."