Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R201Q
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SMARCB1

NM_003073.5:p.R201Q

Associated Papers

The Role of Methylation Analysis in Distinguishing Cellular Myxoma from Low-Grade Myxofibrosarcoma.

Henzinger H et al.

International Journal of Molecular Sciences, 2024

A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.

Brugmans AK et al.

Cellular and Molecular Neurobiology, 2023

37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.

Kato S et al.

Jci Insight, 2021

33427211 (PubMed )
Supplement: jciinsight-6-142547-s159.pdf

Successful treatment of a BRAF V600E-mutant extracranial metastatic anaplastic oligoastrocytoma with vemurafenib and everolimus.

Shi L et al.

Cancer Biology & Therapy, 2019

Concurrent IDH1 and SMARCB1 Mutations in Pediatric Medulloblastoma: A Case Report.

El-Ayadi M et al.

Frontiers in Neurology, 2018

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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."