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Article
Female
Humans
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6
clinical article
female
6
genetic variability
genetics
human
6
male
6
Adult
4
Argentina
4
Germ-Line Mutation
4
Middle Aged
4
Young Adult
4
adult
4
controlled study
4
disease severity
4
exon
4
gene frequency
4
gene sequence
4
germline mutation
4
middle aged
4
missense mutation
4
phenotype
4
point mutation
4
priority journal
4
sequence analysis
4
young adult
4
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