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disease: Pili torti-deafness syndrome

id493
namePili torti-deafness syndrome
variant-disease NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter) AND Pili torti-deafness syndrome
NM_004328.4(BCS1L):c.548G>A (p.Arg183His) AND Pili torti-deafness syndrome
NM_001257344.1(BCS1L):c.901T>A (p.Tyr301Asn) AND Pili torti-deafness syndrome
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) AND multiple conditions
NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly) AND multiple conditions