Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R7Q
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LMNA

NM_170707.4:p.R7Q

Associated Papers

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.

Çavdarlı B et al.

Annals of Human Genetics, 2023

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.

Pessente GD et al.

Frontiers in Cardiovascular Medicine, 2022

35449878 (PubMed )
Supplement: Data_Sheet_1.PDF

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
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