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disease: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly

id2929
nameMetaphyseal dysplasia with maxillary hypoplasia and brachydactyly
variant-disease NC_000006.11:g.45308920_45413885dup AND Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) AND Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) AND Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) AND Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly