Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.K601delFs
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NIPBL

NM_133433.4:p.K601delFs

Associated Papers

Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.

Pardini E et al.

Thoracic Cancer, 2025

41405018 (PubMed )
Supplement: TCA-16-e70205-s001.xlsx › S4

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Parenti I et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41332805 (PubMed )
Supplement: media-1.xlsx › Suppl._Table_2

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-057-ip

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM6_ESM.pdf

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s002.xlsx › Table_S2B

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

NIPBL, a cohesion loading factor, is somatically mutated in gastric and colorectal cancers with high microsatellite instability.

Kim MS et al.

Digestive Diseases and Sciences, 2013

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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."