Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF15
Variant:p.R23H
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ARHGEF15

NM_173728.4:p.R23H

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

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Cipriani V et al.

Ophthalmic Genetics, 2017

28635424 (PubMed )
Supplement: supplement_1.pdf
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