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Which CFTR variants should be tested by laboratories? ACMG releases updated carrier screening recommendations for cystic fibrosis

Which CFTR variants should be tested by laboratories? ACMG releases updated carrier screening recommendations for cystic fibrosis
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Joshual Deignan , American College Of Medical Genetics , Foundation For Genetic , American College , Medical Genetics , Genome Aggregation Database , Ashkenazi Jewish , Northern European , Medicine Open , Genomic Medicine ,

ACMG publishes updated recommendations for CFTR carrier screening

ACMG publishes updated recommendations for CFTR carrier screening
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Megan Craig , Joshual Deignan , American College Of Medical Genetics , American College , Medical Genetics , Genome Aggregation Database , Ashkenazi Jewish , Northern European ,

Which CFTR variants should be tested by laboratories? New recommendations

The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening. Pathogenic variants in the CFTR gene can cause cystic fibrosis (CF) as well as CF-related disorders. The new updated ACMG CFTR variant list includes a set of 100 variants. ....

Joshual Deignan , American College Of Medical Genetics , American College , Medical Genetics , Genome Aggregation Database , Ashkenazi Jewish , Northern European ,