Associated Papers
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC et al.
Cold Spring Harbor Molecular Case Studies, 2018
30054298 (PubMed )
Supplement: supp_mcs.a003160_Supplemental_Material.docx
An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille A et al.
Clinical Neurology and Neurosurgery, 2018
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