Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T128A
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ACTC1

NM_005159.5:p.T128A

Associated Papers

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Hgg Advances, 2023

37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

Long PA et al.

Journal of Cardiovascular Development and Disease, 2017

29367541 (PubMed )
Supplement: jcdd-04-00011-s001.pdf
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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."