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NM_025139.6:c.1027C>T
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NM_025139.6:c.1027C>T
HGVS Expressions
NM_025139.6:c.1027C>T
NP_079415.4:p.Arg343Cys
NC_000002.12:g.231262306C>T
Associated Genes
Armadillo Repeat-Containing Protein 9
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Clinvar Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
759799287
Clinvar
427932
Contributors
Sami Bizzari: 13.09.2022
Edit History
Pratibha Nair: 10.11.2022
Sami Bizzari: 13.09.2022
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