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Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder

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Serey-Gaut M., Essien-Umanah G. K., Makrythanasis P., Suri M., Taylor A. M., Sullivan J., Shashi V., Song X., Rosenfeld J. A., Cabrol C., et al., "Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder", EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.30, sa.SUPPL 1, ss.62, 2022

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