Associated Papers
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D et al.
Journal of Inherited Metabolic Disease, 2022
MC1R and KIT Haplotypes Associate With Pigmentation Phenotypes of North American Yak (Bos grunniens).
Petersen JL et al.
The Journal of Heredity, 2020
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.
Item C et al.
Pediatric Research, 2002
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