ABCC6 p.Arg1138*

ClinVar: c.3413G>A , p.Arg1138Gln D , Pathogenic
c.3412C>T , p.Arg1138Trp D , Pathogenic
LOVD-ABCC6: p.Arg1138Pro D
p.Arg1138Trp D
p.Arg1138Gln D

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[hide] Le Saux O, Beck K, Sachsinger C, Treiber C, Goring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
Hum Genet. 2002 Oct;111(4-5):331-8. Epub 2002 Sep 7., [PMID:12384774]

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