Associated Papers
A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.
Sarusie MVK et al.
Human Molecular Genetics, 2024
39471354 (PubMed )
Supplement: hmg-2024-ce-00288_r2_supplementary_data_ddae134.doc
Exome analysis of a family with pleiotropic congenital heart disease.
Arrington CB et al.
Circulation. Cardiovascular Genetics, 2012
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