Varaico: Literature-Extracted Genetic Variants

Gene:AKAP12
Variant:p.S986L
Back to variants list

AKAP12

NM_144497.2:p.S986L

Associated Papers

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.

Cao X et al.

Journal of Medical Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."