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Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures
by
Bayat, Allan
,
Pendziwiat, Manuela
,
Obersztyn, Ewa
,
Goldenberg, Paula
,
Zacher, Pia
,
Döring, Jan Henje
,
Syrbe, Steffen
,
Begtrup, Amber
,
Borovikov, Artem
,
Sharkov, Artem
,
Karasińska, Aneta
,
Giżewska, Maria
,
Mitchell, Wendy
,
Morava, Eva
,
Møller, Rikke S.
,
Rubboli, Guido
Published in
Frontiers in genetics
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Frontiers In Genetics
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Developmental Delay
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Disease Severity
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Generalized Seizures
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Genetics
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Genetics & Heredity
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Glycosylphosphatidylinositol Biosynthesis Defects
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Inherited Glycosylphosphatidylinositol-Anchored Protein Deficiency
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Life Sciences & Biomedicine
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Myoclonic-Atonic Seizures
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Science & Technology
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