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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GBE1 Q04446 p.Gln236His rs137852892 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR [MIM:607839#0015]
3aml
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 )