Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.Q4857*
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SYNE1

NM_182961.4:p.Q4857*

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

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population.

Peng Y et al.

Frontiers in Neurology, 2018

30619065 (PubMed )
Supplement: Data_Sheet_1.PDF
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