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收藏A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function
Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A.; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar D.; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee, Ashim; Mutsuddi, Mousumi; Houlden, Henry
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收藏Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
Lazar, Csilla H.; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand
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