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DDG2P v3.12 FXR1 Achchuthan Shanmugasundram reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35393337, 30770808; Phenotypes: FXR1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 FXR1 Achchuthan Shanmugasundram gene: FXR1 was added
gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 35393337; 30770808
Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy