Article

Frequency of Carriers for Rare Metabolic Diseases in a Brazilian Cohort of 320 Patients

2021-10-25

Abstract excerpt

<title>Abstract</title> <p>Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome sequencing and estimate the overall frequ...

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Literature Corpus work: 57143f41-4ee6-51cf-be19-6867bbc6a16c
DOI: 10.21203/rs.3.rs-995337/v1

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