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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PAX3 P23760 p.Asn47Lys rs104893652 Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]
2k27
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )