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disease: Griscelli syndrome type 1

id1402
nameGriscelli syndrome type 1
variant-disease NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) AND Griscelli syndrome type 1
MYO5A, 47-BP INS, NT4634 AND Griscelli syndrome type 1
NM_000259.3(MYO5A):c.2012+1G>T AND Griscelli syndrome type 1
NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter) AND Griscelli syndrome type 1
NM_000259.3(MYO5A):c.3098T>G (p.Leu1033Trp) AND Griscelli syndrome type 1