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Publication	Journal	Year	Score	Verdict
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi PMID 39039281	Nat Genet	2024	87	L1 87/100

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi

PMID 39039281 · Nat Genet · 2024

L1 87/100