Varaico: Literature-Extracted Genetic Variants

Gene:ARSF
Variant:p.R249W
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ARSF

NM_001201539.2:p.R249W

Associated Papers

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.

Wang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1

Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.

Rani AQ et al.

Journal of Neurogenetics, 2013

Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.

Marini M et al.

The Medical Journal of Malaysia, 2008

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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."