RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
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Title
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2023-11-03
DOI
10.1016/j.ajhg.2023.10.009
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- SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
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