Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report.
Objective. Novel variant EPG5:c.4205G>A, p.(Arg1402Lys) causes aberrant splicing only in a small proportion of transcripts; therefore, the milder presentation of Vici syndrome in our patient is probably due to the residual presence of EPG5 protein.
Objective. Novel variant EPG5:c.4205G>A, p.(Arg1402Lys) causes aberrant splicing only in a small proportion of transcripts; therefore, the milder presentation of Vici syndrome in our patient is probably due to the residual presence of EPG5 protein.
What the study was
- Study design
- Case report
- Category
- Drug Development
- Maturity
- Exploratory
- Journal
- Endocrine regulations
Why it surfaced
Low-signal Rare diseases with high unmet need entry (Case report design); retained for topic coverage completeness.
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