Article

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive Mendelian disorders using exome sequencing data in 1,642 Thais

2023-06-20

Abstract excerpt

People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosomal recessive and X-linked conditions in couples seeking to learn about their risk of having children with these disorders to have an appropriate reproductive plan. Here, we analyzed the e...

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Identifiers and source

Literature Corpus work: 814b85cb-4174-5436-86ac-984124aef0c9
DOI: 10.1101/2023.06.12.23291300

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