Varaico: Literature-Extracted Genetic Variants

Gene:HAND1
Variant:p.K152N
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HAND1

NM_004821.3:p.K152N

Associated Papers

Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease.

Tabrizi F et al.

Molecular Biology Reports, 2024

The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.

Firulli BA et al.

Cardiovascular Research, 2017

HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.

Wang J et al.

Pediatric Cardiology, 2017

HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle.

Li L et al.

International Journal of Molecular Medicine, 2017

Chromosome 5q33 deletions associated with congenital heart defects.

Starkovich M et al.

American Journal of Medical Genetics. Part A, 2016

Two novel HAND1 mutations in Chinese patients with ventricular septal defect.

Cheng Z et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

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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."