@pansyoboe93
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Lacroix Roman posted an update 6 months, 3 weeks ago
Pathogenic variants in the L-type Ca
channel gene CACNA1C cause a multi-system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatric disorders, collectively known as Timothy syndrome. In 2015, a variant in CACNA1C (p.R518C) was…[Read more]
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Lacroix Roman posted an update 6 months, 3 weeks ago
Pathogenic variants in the L-type Ca
channel gene CACNA1C cause a multi-system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatric disorders, collectively known as Timothy syndrome. In 2015, a variant in CACNA1C (p.R518C) was…[Read more]
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Lacroix Roman posted an update 6 months, 3 weeks ago
Our data uncover the uncharacterized functions of DIAPH3 and provide evidence that this protein belongs to a molecular toolbox that links microtubule dynamics during mitosis to aneuploidy, cell death, fate determination defects, and cortical malformation.New mathematical model reveals how the flagella of some single-celled algae generate a…[Read more]
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Lacroix Roman became a registered member 6 months, 3 weeks ago