Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.W922*
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SMARCA4

NM_003072.5:p.W922*

Associated Papers

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Chesneau B et al.

Clinical Genetics, 2026

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

[Different Gene Mutation Spectrum of the Paired CSF and Plasma Samples in Lung Adenocarcinoma with Leptomeningeal Metastases: the Liquid Biopsy Based on Circulating Tumor DNA].

Li H et al.

Zhongguo Fei Ai Za Zhi = Chinese Journal of Lung Cancer, 2020

An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Lu B et al.

Journal of Cancer, 2019

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Witkowski L et al.

Nature Genetics, 2014

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Ramos P et al.

Rare Diseases (austin, Tex.), 2014

26942101 (PubMed )
Supplement: krad-02-01-967148-s001.zip › 967148_Supplementary_Materials › 967148_Supplemental_Table_1.xlsx › Supplemental_Table_1
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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."