Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.L185L
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ACTB

NM_001101.5:p.L185L

Associated Papers

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

Chong JX et al.

Hgg Advances, 2023

37457373 (PubMed )
Supplement: mmc4.pdf

Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1).

Anedda F et al.

Plos One, 2011

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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."