Associated Papers
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Congenital disorders of glycosylation: narration of a story through its patents.
Monticelli M et al.
Orphanet Journal of Rare Diseases, 2023
In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.
Zhao Y et al.
Molecular & Cellular Proteomics : Mcp, 2023
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Montasser ME et al.
Science (new York, N.y.), 2021
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