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Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.
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2019Neural tube defects (NTDs) are a group of major congenital anomalies resulting from very early disruption in the development of the central nervous system; they include spina bifida, anencephaly, and encephalocele. These conditions are incurable and often incompatible with life, resulting in stillbirths, as well as neonatal, infant, and under-five ...
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