Activity
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| DDG2P v6.17 | GSC | Achchuthan Shanmugasundram reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24290375; Phenotypes: OMIM:602471.0, MONDO:0011227, GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | GSC |
Achchuthan Shanmugasundram gene: GSC was added gene: GSC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSC were set to 24290375 Phenotypes for gene: GSC were set to MONDO:0011227; OMIM:602471.0; GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) |
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