Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.T150I
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LMNA

NM_170707.4:p.T150I

Associated Papers

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S7

Lamin and the heart.

Captur G et al.

Heart (british Cardiac Society), 2018

Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

Adler A et al.

Circulation. Arrhythmia and Electrophysiology, 2016

26743238 (PubMed )
Supplement: circae_circae-2015-003440-t_supp1.pdf

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

Chami N et al.

The Canadian Journal of Cardiology, 2014

The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN.

Hirtle-Lewis M et al.

Clinical Cardiology, 2013

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

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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