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Humans
11
controlled study
human
missense mutation
Female
9
Male
9
female
9
genetics
9
male
9
Adult
7
Argentina
7
Middle Aged
7
Mutation, Missense
7
adult
7
exon
7
frameshift mutation
7
gene deletion
7
middle aged
7
mutational analysis
7
Article
6
clinical article
6
alanine
5
amino acid substitution
5
article
5
gene insertion
5
glycine
5
heterozygosity
5
intron
5
metabolism
5
nucleic acid base substitution
5
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1
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2
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3
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4
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5
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6Artículo publishedVersion
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