Associated Papers
Experimental insights into MMACHC variants using a novel minigene system.
Dong Y et al.
Molecular Genetics and Metabolism, 2025
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Peng G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30209273 (PubMed )
Supplement: 41436_2018_272_MOESM7_ESM.xlsx › Supplementary_Table_1
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
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