Varaico: Literature-Extracted Genetic Variants

Gene:PLPBP
Variant:p.Y69del1
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PLPBP

NM_007198.4:p.Y69del1

Associated Papers

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N et al.

American Journal of Human Genetics, 2016

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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."