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GRACILE Syndrome
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Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
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http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=378542
2002 paper by Visapää et al.
Online Mendelian Inheritance in Man
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603358
Details the state of knowledge of the genetics of Gracile Syndrome.
Molecular Genetics of The Gracile Syndrome
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http://www.ktl.fi/attachments/suomi/julkaisut/julkaisusarja_a/2002a28.pdf
Very detailed information in the form of a dissertation by Ilona Visapää.
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