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disease: Acromesomelic dysplasia Maroteaux type

id126
nameAcromesomelic dysplasia Maroteaux type
variant-disease NM_003995.3(NPR2):c.2944G>A (p.Asp982Asn) AND Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.1162C>T (p.Arg388Ter) AND Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.1815+2T>C AND Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) AND Acromesomelic dysplasia Maroteaux type
NM_003995.3(NPR2):c.94C>A (p.Pro32Thr) AND Acromesomelic dysplasia Maroteaux type
... 16 more