DOI:
10.1055/s-00000041
Neuropediatrics
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References
McEntagart M, Williamson KA, Rainger JK. , et al; DDD Study.
A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect.
Am J Hum Genet 2016;
98 (05) 981-992
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