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Human Genome Variation - ResearchHub

Journal

Human Genome Variation

2054-345X · Springer Science and Business Media LLC

3 verified public works

Browse all journals →

Benign enlargement of the subarachnoid space with transient intracranial hypertension in Marfan syndrome carrying a novel FBN1 variant

2026 · 0 citations

A novel truncating FBN1 variant in a family with Marfan syndrome

2026 · 0 citations

Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant

2026 · 0 citations

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