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disease: Temtamy syndrome

id854
nameTemtamy syndrome
variant-disease NM_138425.4(C12orf57):c.53-1G>A AND Temtamy syndrome
NM_138425.4(C12orf57):c.136_138del (p.Asp46del) AND Temtamy syndrome
NM_138425.4(C12orf57):c.46G>A (p.Ala16Thr) AND Temtamy syndrome
NM_138425.4(C12orf57):c.272A>G (p.Gln91Arg) AND Temtamy syndrome
NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln) AND Temtamy syndrome
... 30 more