Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.T5426M
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SYNE1

NM_182961.4:p.T5426M

Associated Papers

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › ONM_proteins

Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Nakagaki T et al.

Oncotarget, 2017

28938622 (PubMed )
Supplement: oncotarget-08-59113-s005.xlsx › Table_S4

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

Ferreira EN et al.

Human Genomics, 2016

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

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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."