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References in periodicals archive ?
Genes in deleted region (7p13-p12.1) and predicted phenotypic effects Gene OMIM Description HI% pLI Phenotype number GCK 138079 Glucokinase 8.07 0.20 MODY type 2 CCM2 607929 CCM2 scaffolding 28.18 0.48 Cerebral protein cavernomatous malformations IGFBP-3 146732 Insulin-like growth 6.39 0.36 Decrease in factor-binding postnatal growth protein 3 OGDH 613022 Oxoglutarate 17.23 0.99 Short stature, dehydrogenase hypotonia, cognitive impairment, and movement abnormalities OMIM: Online Mendelian Inheritance in Man, MODY: maturity-onset diabetes of the young, HI: haploinsufficiency index - protein coding genes have been scored according to their predicted probability of exhibiting haploinsufficiency (5), pLI: lost intolerance score.
PHACES, also known as Online Mendelian Inheritance in Man #606519, is an acronym for a rare neurocutaneous disorder characterized by the following: posterior fossa anomalies; hemangioma; arterial abnormalities; cardiac and aortic arch defects; eye abnormalities; and sternal cleft anomalies.
Online Mendelian Inheritance in Man. #115470, www.ncbi.nlm.nih.gov (accessed Aug.
For more information on the intricacies of genetics, go to the National Center for Biotechnology Information's site, which has a feature called the Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/Omim/searchomim.html).