Varaico: Literature-Extracted Genetic Variants

Gene:VIPAS39
Variant:p.F113delFs
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VIPAS39

NM_001193315.2:p.F113delFs

Associated Papers

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.

Satomura Y et al.

Journal of Medical Case Reports, 2022

Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report.

Zhu Y et al.

Frontiers in Pediatrics, 2022

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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."