Corpus 1,273 assessed · 1,174 scored · 643 reproduced ≥75 · 169 flagged ·∅ 74.1/100

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1 matching publication(s)

Publication	Journal	Year	Score	Verdict
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. PMID 31044419	Clinical Genetics	2019	78	L1 78/100

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.

PMID 31044419 · Clinical Genetics · 2019

L1 78/100