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Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… to hair and skin, and a rare genetic condition called Niemann-Pick disease type C. Dr. Pavan’s notable achievements include … NPC1, and found that variants of the gene results in Niemann-Pick disease type C. In a conversation with science …
The Genomics Landscape
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 …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2334F. Katherine Chao: Novel NPC variants causing severe Niemann Pick C deficiency. (Metabolic Disorders) Other Sessions …