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| DDG2P v3.12 | ECHS1 | Achchuthan Shanmugasundram reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25125611, 29575569, 26000322, 35856138, 25393721; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ECHS1 |
Achchuthan Shanmugasundram gene: ECHS1 was added gene: ECHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 25125611; 29575569; 26000322; 35856138; 25393721 Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY |
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