Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.T742M
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SMARCAL1

NM_014140.4:p.T742M

Associated Papers

Four heterozygous de novo variants in ASXL3 identified with Bainbridge-Ropers syndrome and further dissecting published genotype-phenotype spectrum.

Ling S et al.

Frontiers in Neuroscience, 2024

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Heft Neal ME et al.

Bmc Cancer, 2021

Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.

Wang X et al.

Frontiers in Pharmacology, 2018

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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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."