gene deletion 54 genetics metabolism 38 article 36 Humans 30 controlled study 30 human 30 Gene Deletion 22 nonhuman 22 priority journal 22 promoter region 18 Article 16 exon 16 female 16 Female 14 Male 14 male 14 mutation 14 nucleotide sequence 14 phenotype 14 physiology 14 Argentina 12 enzymology 12 frameshift mutation 12 missense mutation 12 unclassified drug 12 Adult 10 RNA 10 Sequence Deletion 10 adult 10