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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLPTM1

Variant:p.R568Q

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CLPTM1

NM_001294.4:p.R568Q

hg38:chr19:44992380 G>A

Associated Papers

De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.

Liu N et al.

Epilepsia, 2023

37577761 (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."