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disease: Meckel syndrome type 2

id5461
nameMeckel syndrome type 2
variant-disease NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) AND Meckel syndrome type 2
NM_001173991.2(TMEM216):c.341T>G (p.Leu114Arg) AND Meckel syndrome type 2
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) AND Meckel syndrome type 2
NM_001173990.2(TMEM216):c.35-2A>G AND Meckel syndrome type 2
NM_001173990.2(TMEM216):c.222delG (p.Phe76Leufs) AND Meckel syndrome type 2
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