New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing
Author(s) -
Liliana Catherine Patiño,
Isabelle Beau,
Carolina Carlosama,
July Constanza Buitrago,
Ronald González,
Carlos F. Suárez,
Manuel A. Patarroyo,
Brigitte Delemer,
Jacques Young,
Nadine Binart,
Paul Laissue
Publication year - 2017
Publication title -
human reproduction
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.446
H-Index - 226
eISSN - 1460-2350
pISSN - 0268-1161
DOI - 10.1093/humrep/dex089
Subject(s) - sanger sequencing , exome sequencing , biology , candidate gene , genetics , exome , disease gene identification , mutation , gene , genetic heterogeneity , in silico , bioinformatics , computational biology , phenotype
Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)?
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