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disease: Brachydactyly-Mental Retardation syndrome

id1058
nameBrachydactyly-Mental Retardation syndrome
variant-disease GRCh37/hg19 2q37.3(chr2:239071623-243048760) AND Brachydactyly-Mental Retardation syndrome
NM_006037.3(HDAC4):c.2399dup (p.Gly801fs) AND Brachydactyly-Mental Retardation syndrome
NM_006037.3(HDAC4):c.155G>A (p.Arg52His) AND Brachydactyly-Mental Retardation syndrome
NM_006037.3(HDAC4):c.1794G>A (p.Glu598=) AND Brachydactyly-Mental Retardation syndrome
GRCh37/hg19 2q37.3(chr2:238795602-242918203) AND Brachydactyly-Mental Retardation syndrome
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