Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
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Lee YR, et al. Among authors: srikanth s.
Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6.
Nat Commun. 2020.
PMID: 32703943
Free PMC article.