Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy by Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.

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Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 by Lin, Angela E., Birch, Patricia H., Korf, Bruce R., Tenconi, Romano, Niimura, Michihito, Poyhonen, Minna, Armfield Uhas, Kim, Sigorini, Mauro, Virdis, Raffaele, Romano, Corrado, Bonioli, Eugenio, Wolkenstein, Pierre, Pivnick, Eniko K., Lawrence, Marcella, Friedman, J.M.

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