Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE2
Variant:p.S116fs
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NSMCE2

NM_173685.4:p.S116fs

Associated Papers

A genome-wide RNAi screen identifies the SMC5/6 complex as a non-redundant regulator of a Topo2a-dependent G2 arrest.

Deiss K et al.

Nucleic Acids Research, 2019

30590722 (PubMed )
Supplement: gky1295_supplemental_files.zip › Table_S2_Cell_Line_information_EDITED.xlsx › Sheet1

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

Chen JH et al.

Disease Models & Mechanisms, 2017

28982679 (PubMed )
Supplement: dmm-10-030981-s1.pdf

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

Esteban-Jurado C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

Payne F et al.

The Journal of Clinical Investigation, 2014

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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."