SAMM50
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Template:Short description Template:Infobox gene Sorting and assembly machinery component 50 homolog is a protein that in humans is encoded by the SAMM50 gene.[1][2]
Clinical significance
By means of exome sequencing, two variants - P377A and V231I on the SAMM50 gene were determined to have a potential relationship to the disease phenotype of Ezra, 9 year old male with Epilepsy, ESES, Hemiplegic Migraine, Exocrine Pancreatic Insuffiency, CSID, Global Apraxia, developmental regressions. History of torticollis, psychomotor regression, colitis as well as Carnitine Deficiency.
References
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Further reading
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