Varaico: Literature-Extracted Genetic Variants

Gene:PREPL
Variant:p.E206Splc
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PREPL

NM_006036.4:p.E206Splc

Associated Papers

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.

Yang Q et al.

Frontiers in Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."