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Article

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.

Annals of neurology - 1 Apr 2020

Koboldt Daniel C, Waldrop Megan A, Wilson Richard K, Flanigan Kevin M

Abstract excerpt

The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adaptor protein required for dynein-mediated transport. Inherited and de novo variants in BICD2 cause SMALED2 (spinal muscular atrophy lower extremity dominant 2), and a subset have recently been reported to cause severe, often lethal disease. However, a true genotype-phenotype correlation for BICD2 has not been performed, and cases described...

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Identifiers

PMID: 32057122
DOI: 10.1002/ana.25704

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.PMID 32057122Read ↗

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