Angelman Syndrome Due to Maternal 15q11q13 Deletion

Alias:
Angelman Syndrome Due to Maternal Monosomy 15q11q13
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Basic Information
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References Literature
Angelman Syndrome Due to Maternal 15q11q13 Deletion, also known as angelman syndrome due to maternal monosomy 15q11q13, is related to angelman syndrome and oculocutaneous albinism. An important gene associated with Angelman Syndrome Due to Maternal 15q11q13 Deletion is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways/superpathways is Prader-Willi and Angelman syndrome. Affiliated tissues include tongue and skin, and related phenotypes are seizure and eeg abnormality
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Basic Information

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Reference
MALACARDS
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Unknown
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2
106
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References Literature

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