Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.K601fs
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NIPBL

NM_133433.4:p.K601fs

Associated Papers

DNA Damage Repair Deficiency in Pancreatic Ductal Adenocarcinoma: Preclinical Models and Clinical Perspectives.

Stoof J et al.

Frontiers in Cell and Developmental Biology, 2021

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_4

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30158690 (PubMed )
Supplement: NIHMS973104-supplement-Table_S2.xlsx › Sheet1

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Yuan B et al.

The Journal of Clinical Investigation, 2015

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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."