👤 Arianna Panfili

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Articles

articles

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in

Stefania Bigoni, Giuseppe Marangi, Silvia Frangella +5 more · 2020 · Genes · MDPI · added 2026-04-24

Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, Arianna Panfili, Davide Ognibene, Gabriella Maria Squeo, Giuseppe Merla, Marcella Zollino Show less

Massive parallel sequencing of 70 genes in a girl with a suspicion of chromatinopathy detected the (NM₀₁₅₄₄₃.4:)c.985₉₈₆delTT variant in exon 2 of

📄 PDF DOI: 10.3390/genes11101177

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