Associated Papers
An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.
Ozturk FN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S12_RASopathy_A
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