A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
Author:
Funder
Higher Education Commision, Pakistan
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01319-7.pdf
Reference48 articles.
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2. Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33–48.
3. Emery AE. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord. 1991;1:19–29.
4. Deenen JC, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. J Neuromuscul Dis. 2015;2:73–85.
5. Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, et al. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015;52:208–16.
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