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4 matching publication(s)
OptiType: precision HLA typing from next-generation sequencing data.
PMID 25143287 · Bioinformatics · 2014
L1
95/100
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