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Mutation Report for: L197del_human-PGAP1
Name
Class
L197del_human-PGAP1
Gene_locus
human-PGAP1
Mode_of_mutation
Natural mutant
Paper
Murakami_2014_PLoS.Genet_10_e1004320
Disease
Mental retardation, autosomal recessive 42 MRT42
Comment
p.Leu197del c.589_591delCTT homozygous in two sibblings
Send your questions or comments to :
Mail to:
Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite:
Lenfant 2013 Nucleic.Acids.Res.
or
Marchot Chatonnet 2012 Prot.Pept Lett.
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