Associated Papers
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.
Weintraub G et al.
Database : the Journal of Biological Databases and Curation, 2024
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Hadar N et al.
European Journal of Human Genetics : Ejhg, 2023
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
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