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■ Abbreviation / Long Form : HCC / Hypomyelination and congenital cataract

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Total Number of Papers: 5
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Abbreviation:   HCC  (>> Co-occurring Abbreviation)
Long Form:   Hypomyelination and congenital cataract
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 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2016 The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasmamembrane. ---
2013 Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families. ---
2012 Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. CNS and PNS, DRG, SC
2011 Hypomyelination and congenital cataract: broadening the clinical phenotype. ---
2008 Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. ---