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Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2453902648

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

About this item

Full title

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

Publisher

United States: Public Library of Science

Journal title

PloS one, 2020-10, Vol.15 (10), p.e0240795-e0240795

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several genes. The majority of cases are still unsolved. Our aim was to identify the molecular diagnosis of a Brazilian cohort with POI. Genetic analysis was performed using a customized panel of targeted massively parallel sequencing (TMPS) and the candidate variants w...

Alternative Titles

Full title

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2453902648

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2453902648

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0240795

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