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disease: Brachydactyly type E1

id525
nameBrachydactyly type E1
variant-disease GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3 AND Brachydactyly type E1
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) AND Brachydactyly type E1
NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu) AND Brachydactyly type E1
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs) AND multiple conditions