Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.R188H
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ADSL

NM_000026.4:p.R188H

Associated Papers

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Demos M et al.

Frontiers in Neurology, 2019

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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."