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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKACA

Variant:p.L83P

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PRKACA

NM_002730.4:p.L83P

hg38:chr19:14102904 A>G

Associated Papers

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.

Fujita A et al.

Neurology, 2019

31197031 (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."