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disease: Achondrogenesis, type IA

id17
nameAchondrogenesis, type IA
variant-disease NP_004230.2(TRIP11):p.Trp1224Ter AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) AND Achondrogenesis, type IA
... 24 more