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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6.
Nat Commun. 2020.
PMID: 32703943
Free PMC article.
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.
Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, Armfield Uhas K, Sigorini M, Virdis R, Romano C, Bonioli E, Wolkenstein P, Pivnick EK, Lawrence M, Friedman JM.
Lin AE, et al. Among authors: armfield uhas k.
Am J Med Genet. 2000 Nov 13;95(2):108-17. doi: 10.1002/1096-8628(20001113)95:2<108::aid-ajmg4>3.0.co;2-0.
Am J Med Genet. 2000.
PMID: 11078559
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