Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.G479R
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LDB3

NM_007078.3:p.G479R

Associated Papers

A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.

Svaguša T et al.

Clinical Genetics, 2024

Mapping the functional landscape of the receptor binding domain of T7 bacteriophage by deep mutational scanning.

Huss P et al.

Elife, 2021

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S7

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391
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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."