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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHBDL1

Variant:p.V244A

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RHBDL1

NM_001278720.2:p.V244A

hg38:chr16:677501 T>C

Associated Papers

Distinct Functions of Syntaxin-1 in Neuronal Maintenance, Synaptic Vesicle Docking, and Fusion in Mouse Neurons.

Vardar G et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

27466336 (PubMed )

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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."