Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
Yang RL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.
Boutron A et al.
Molecular Genetics and Metabolism, 2012
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