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A pooled electronic consultation program to improve access to genetics specialists por Emma K. Folkerts, Renée C. Pelletier, Daniel C. Chung, Susan A. Goldstein, Douglas S. Micalizzi, Kristen M. Shannon, David A. Sweetser, Eugene K. Wong, Heidi L. Rehm, Leland E. Hull
Publicado 2023-01-01
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays por Xueyang Pan, Albert N Alvarez, Mengqi Ma, Shenzhao Lu, Michael W Crawford, Lauren C Briere, Oguz Kanca, Shinya Yamamoto, David A Sweetser, Jenny L Wilson, Ruth J Napier, Jonathan N Pruneda, Hugo J Bellen
Publicado 2023-12-01
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