Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.M287Splc
Back to variants list

LDB3

NM_007078.3:p.M287Splc

Associated Papers

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

de Koning MA et al.

European Journal of Human Genetics : Ejhg, 2025

40841822 (PubMed )
Supplement: 41431_2025_1924_MOESM1_ESM.xlsx › Supplementary_Table_1

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.

Koopmann TT et al.

European Journal of Human Genetics : Ejhg, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."