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phosphorylase kinase deficiency of liver and muscle, autosomal recessive
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PHKB
Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
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