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disease: Achondrogenesis, type IA

id17
nameAchondrogenesis, type IA
variant-disease NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) AND Achondrogenesis, type IA
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) AND Achondrogenesis, type IA
... 37 more