Varaico: Literature-Extracted Genetic Variants

Gene:CPT1B
Variant:p.R683H
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CPT1B

NM_152246.3:p.R683H

Associated Papers

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants.

Previtali R et al.

Frontiers in Neurology, 2023

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

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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."