Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.N231S
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LMNA

NM_170707.4:p.N231S

Associated Papers

Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.

Bauer R et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.

Voinescu OR et al.

International Journal of Molecular Sciences, 2024

38473809 (PubMed )
Supplement: ijms-25-02562-s001.zip › ijms-2858191-supplementary.xlsx › DCM_genes

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Kotta MC et al.

Journal of the American Heart Association, 2023

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

28663758 (PubMed )
Supplement: Table_1.XLSX › ExAC

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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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."