Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K171_L172Splc
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LMNA

NM_170707.4:p.K171_L172Splc

Associated Papers

Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.

Wang G et al.

Journal of Applied Genetics, 2025

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.

Wu XY et al.

Pharmaceuticals (basel, Switzerland), 2024

Cardiovascular Magnetic Resonance Imaging in Familial Dilated Cardiomyopathy.

Lau C et al.

Medicina (kaunas, Lithuania), 2023

Characterization of cardiac involvement in patients with LMNA splice-site mutation-related dilated cardiomyopathy and sudden cardiac death.

Ling X et al.

Frontiers in Genetics, 2023

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

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Atalaia A et al.

Journal of Neuromuscular Diseases, 2021

33682723 (PubMed )
Supplement: jnd-8-jnd200596-s001.xlsx › LMNA

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.

Chen CH et al.

Bmc Research Notes, 2013

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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."