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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAFAH1B1

Variant:p.S283_A285delFs

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PAFAH1B1

NM_000430.4:p.S283_A285delFs

hg38:chr17:2674236 CCTGGG>C

Associated Papers

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Demos M et al.

Frontiers in Neurology, 2019

31164858 (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."