Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.V107_G108Splc
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DCAF17

NM_025000.4:p.V107_G108Splc

Associated Papers

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

Kolarova H et al.

Ebiomedicine, 2022

35180557 (PubMed )
Supplement: mmc3.xlsx › List1
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