Corpus 1,272 assessed · 1,173 scored · 643 reproduced ≥75 · 168 flagged ·∅ 74.1/100

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2 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
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. PMID 23350639	Clinical genetics	2013	—	L1 No computation

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

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.

PMID 23350639 · Clinical genetics · 2013

L1 No computation