Work

Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel’s experience

Year: 2021

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/s1096-7192(21)00439-x

Authors: Emily Groopman, Meredith Weaver, Diane Zastrow, Gregory Enns, Annette Feigenbaum, Uta Lichter-Konecki, Elaine Lyon, Marzia Pasquali, Ljuba Caldovic, Justyne Ross, William Craigen

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W3155631215

FWCI:

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