Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.E178D
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SMARCB1

NM_003073.5:p.E178D

Associated Papers

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

A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.

Tyran M et al.

Cancers, 2019

31086113 (PubMed )
Supplement: cancers-11-00665-s001.zip › Supplementary › Table_S3.xlsx › Suppl_table_3
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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."