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PLoS ONE. September 14, 2016, Vol. 11 Issue 9, e0162230.
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PLoS ONE. October 9, 2013, Vol. 8 Issue 10, e75793.
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Human Genetics. January, 2017, Vol. 136 Issue 1, p107, 12 p.
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Orphanet Journal of Rare Diseases. August 7, 2019, Vol. 14 Issue 1.
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BMC Medical Genetics. May 17, 2019, Vol. 20 Issue 1.
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PLoS ONE. February 24, 2012, Vol. 7 Issue 2, e31276.
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Human Genetics. April, 2016, Vol. 135 Issue 4, p441, 10 p.
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PLoS ONE. October 28, 2016, Vol. 11 Issue 10, e0165650.
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Journal of Clinical Investigation. August, 2019, Vol. 129 Issue 8, p3252, 12 p.
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