Varaico: Literature-Extracted Genetic Variants

Gene:PRDM8
Variant:p.F261L
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PRDM8

NM_001099403.2:p.F261L

Associated Papers

The second family affected with a PRDM8-related disease.

Davarzani A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity.

Jung CC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Progressive Myoclonus Epilepsies.

Kälviäinen R

Seminars in Neurology, 2015

Are c.436G>A mutations less severe forms of Lafora disease? A case report.

Lanoiselée HM et al.

Epilepsy & Behavior Case Reports, 2014

Early-onset Lafora body disease.

Turnbull J et al.

Brain : a Journal of Neurology, 2012

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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."