Activity
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2 actions
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| DDG2P v6.17 | PKDCC | Achchuthan Shanmugasundram reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 36896672, 37592254, 30478137, 38860479; Phenotypes: PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature, OMIM:618821.0, MONDO:0032935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PKDCC |
Achchuthan Shanmugasundram gene: PKDCC was added gene: PKDCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to 38860479; 37592254; 30478137; 36896672 Phenotypes for gene: PKDCC were set to MONDO:0032935; PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature; OMIM:618821.0 |
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