Varaico: Literature-Extracted Genetic Variants

Gene:RAB6A
Variant:p.I189F
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RAB6A

NM_198896.2:p.I189F

Associated Papers

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

Koboldt DC et al.

Annals of Neurology, 2020

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.

Martinez-Carrera LA et al.

Frontiers in Neuroscience, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."