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White matter disorders and cerebral calcification - narrow panel v1.220 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2 to Aicardi-Goutieres syndrome 2, OMIM:610181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2B |
Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 2 for gene: RNASEH2B Publications for gene RNASEH2B were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 to 25604658 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2 |