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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

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Description scientific article published on 23 July 2020
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author: Karen Gripp  Mercedes Pardo  Cheol-Hee Kim  Lu Yu  Jyoti Choudhary  Daseuli Yu  Soo Jeong Kwon  Michael J Lyons  Joy W Norris  Tae-Ik Choi  Roger E Stevenson  Won Do Heo  Marie Mooney  Kirsty McWalter  Shahid M Baig  Charles E. Schwartz  Trevor Moreland  Yunhui Peng  David J Adams  Yu-Ri Lee  Erica E Davis 

Publication date July 23, 2020
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