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| White matter disorders and cerebral calcification - narrow panel v1.196 | GBE1 | Arina Puzriakova Phenotypes for gene: GBE1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD) to Polyglucosan body disease, adult form, OMIM:263570; General Leukodystrophy & Mitochondrial Leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 25655951 Phenotypes for gene: GBE1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Polyglucosan body disease, adult form; Polyglucosan Body Disease (PGBD) |
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