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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CABIN1

Variant:p.K42R

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CABIN1

NM_012295.4:p.K42R

hg38:chr22:24038376 A>G

Associated Papers

Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals.

Kontaxi C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023

36759195 (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."