Corpus 1,285 assessed · 1,186 scored · 647 reproduced ≥75 · 174 flagged ·∅ 73.9/100

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Filters: University Medical Center Hamburg-Eppendorf ✕ 2014 ✕ clear all

3 matching publication(s)

Publication	Journal	Year	Score	Verdict
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR. PMID 25178484	—	2014	—	L1 No computation
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm. PMID 24193348	European Journal of Human Genetics	2014	83	L1 83/100
Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant PMID 24529129	—	2014	—	L1 No computation

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.

PMID 25178484 · · 2014

L1 No computation

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

PMID 24193348 · European Journal of Human Genetics · 2014

L1 83/100

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

PMID 24529129 · · 2014

L1 No computation