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| White matter disorders and cerebral calcification - narrow panel v1.246 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome; Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 6 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | ADAR |
Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy for gene: ADAR Publications for gene ADAR were changed from 23001123; 25604658 to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_584 |
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| White matter disorders and cerebral calcification - narrow panel v0.11 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 23001123; 25604658 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 6 |
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