Associated Papers
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.
Sang P et al.
Journal of Biomolecular Structure & Dynamics, 2017
27677826 (PubMed )
Supplement: supplement_1.zip › Supplementary_file › Supplementary_Information.doc
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
Skidmore DL et al.
American Journal of Medical Genetics. Part A, 2011
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