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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

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Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Committed to the Development of Tests for Early Diagnosis of Patients with Menkes Disease

/PRNewswire/ -- Sentynl Therapeutics, Inc. ("Sentynl") a US-based biopharmaceutical company focused on bringing innovative therapies to patients living with...
United States Jamie Eckman Michael Hercz Founders Of The Menkes Foundation Menkes Foundation Sentynl Therapeutics Inc

Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Committed to the Development of Tests for Early Diagnosis of Patients with Menkes Disease

/PRNewswire/ -- Sentynl Therapeutics, Inc. ("Sentynl") a US-based biopharmaceutical company focused on bringing innovative therapies to patients living with...
United States Jamie Eckman Michael Hercz Founders Of The Menkes Foundation Menkes Foundation Sentynl Therapeutics Inc

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