Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.M1delFs
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LMNA

NM_170707.4:p.M1delFs

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 › Lamins

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Fan Y et al.

Journal of Medical Genetics, 2021

32571898 (PubMed )
Supplement: jmedgenet-2019-106671supp001.pdf

Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

Cimiotti D et al.

International Journal of Molecular Sciences, 2021

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Kasak L et al.

Human Mutation, 2019

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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."