Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
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