ATM
NM_000051.4:p.Q374*
Yamamoto K et al.
Elife, 2016
Termsarasab P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
Skowronska A et al.
Haematologica, 2012
Mitui M et al.
Human Mutation, 2003