Corpus 1,280 assessed · 1,181 scored · 646 reproduced ≥75 · 170 flagged ·∅ 74/100

Publications 2 Datasets 392.5k Experiments 5.1k

Explore

Filters: Altonaer Kinderkrankenhaus ✕ clear all

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
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. PMID 17033964	—	2006	75	L1 75/100

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

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

PMID 17033964 · · 2006

L1 75/100