Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.H87H
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ACTB

NM_001101.5:p.H87H

Associated Papers

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Babu D et al.

Endocrinology, 2014

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT et al.

American Journal of Human Genetics, 2007

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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."