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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEK

Variant:p.F219_P220Splc

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PLEK

NM_002664.3:p.F219_P220Splc

hg38:chr2:68386691 G>A

Associated Papers

Startle Disease: New Molecular Insights into an Old Neurological Disorder.

Schaefer N et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023

35754344 (PubMed )

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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."