KEGG MEDICUS Search Result |
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| Entry | Name |
|---|---|
| 1141v1 | CHRNB2 gain-of-function mutation |
| 1141v2 | CHRNB2 mutation |
| 114548v1 | NLRP3 mutation |
| 114609v1 | TIRAP mutation |
| 114798v1 | SLITRK1 mutation |
| 115650v1 | TNFRSF13C mutation |
| 116150v1 | NUS1 deficiency |
| 1161v1 | ERCC8 mutation |
| 116228v1 | COX20 mutation |
| 1174v1 | AP1S1 mutation |
| 117531v1 | TMC1 mutation |
| 118461v1 | CEFIP mutation |
| 1186v1 | CLCN7 mutation |
| 1186v2 | CLCN7 mutation |
| 118v1 | ADD1 mutaton |
| 1200v1 | TPP1 deficiency |
| 1201v1 | CLN3 mutation |
| 120227v1 | CYP2R1 deficiency |
| 1203v1 | CLN5 mutation |
| 120892v1 | LRRK2 mutation |
| 120v1 | ADD3 mutation |
| 121214v1 | SDR9C7 mutation |
| 121278v1 | TPH2 mutation |
| 1213v1 | CLTC mutation |
| 124590v1 | USH1G mutation |
| 124872v1 | B4GALNT2 SID1/Sd(a) allele |
| 124872v2 | B4GALNT2 Sd(a-) allele |
| 126328v1 | NDUFA11 mutation |
| 126410v1 | CYP4F22 mutation |
| 126792v1 | B3GALT6 mutation |
| 1272v1 | CNTN1 mutation |
| 1277v1 | COL1A1 mutation |
| 1278v1 | COL1A2 mutation |
| 1280v1 | COL2A1 mutation |
| 128178v1 | EDARADD mutation |
| 1281v1 | COL3A1 mutation |
| 1282v1 | COL4A1 mutation |
| 1282v2 | COL4A1 mutation |
| 1284v1 | COL4A2 mutation |
| 1285v1 | COL4A3 mutation |
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