Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.I206delFs
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EMD

NM_000117.3:p.I206delFs

Associated Papers

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Baskar D et al.

Journal of Neuromuscular Diseases, 2024

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 › INM_proteins

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Cerino M et al.

Genes, 2022

35741838 (PubMed )
Supplement: genes-13-01076-s001.zip › genes-1739915-supplementary › Supplementary_Material › Supplementary_Table_S1.pdf

Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.

Sanga S et al.

European Journal of Neurology, 2021

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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."