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1 - 1 of 1 for “Niemann-Pick” for “Niemann-Pick”
The Genomics Landscape
CSER consortium ends after twelve years of groundbreaking research
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… lysosomal transmembrane protein whose mutation results in Niemann-Pick disease, type C1. A scientific symposium was held at …