Ethnically unique disease burden and limitations of current expanded carrier screening panels

The purpose of the study is to identify the recessive diseases currently affecting real‐world pediatric patients in Taiwan, and whether current extended carrier screening panels have the coverage and detective power to identify the pathogenic variants in the carrier parents.

• Publication year

  2023

• Venue

  International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

• Publication date

  2023-09-08

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ijgo.15072PMID 37681470
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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