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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.
Am J Med Genet A. 2024 Dec 22:e63972. doi: 10.1002/ajmg.a.63972. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 39711104
Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.
Arnskötter F, da Silva PBG, Schouw ME, Lukasch C, Bianchini L, Sieber L, Garcia-Lopez J, Ahmad ST, Li Y, Lin H, Joshi P, Spänig L, Radoš M, Roiuk M, Sepp M, Zuckermann M, Northcott PA, Patrizi A, Kutscher LM.
Arnskötter F, et al. Among authors: schouw me.
Neurobiol Dis. 2024 Sep;199:106600. doi: 10.1016/j.nbd.2024.106600. Epub 2024 Jul 10.
Neurobiol Dis. 2024.
PMID: 38996985
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