Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.M4697I
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SYNE1

NM_182961.4:p.M4697I

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 and extending the mutational spectrum in Korea.

Kim JS et al.

Parkinsonism & Related Disorders, 2019

Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.

Algahtani H et al.

Journal of the Neurological Sciences, 2017

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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."