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Paper Details

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.
Eur J Hum Genet
3
2023
AGPAT3, Agpat3, HEK293T cells, ID, Intellectual disability, RD, RP, Tyr249Ter, WT, c.747C, exon 7, intellectual disability, mouse, mutant AGPAT3, retinal dystrophy, retinitis pigmentosa, retinitis pigmentosa (IDRP) syndrome
Author NameAffiliation
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Suzanne M LealCenter for Statistical Genetics, Columbia University Medical Center
Suzanne M LealTaub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center
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