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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAFAH1B1

Variant:p.R20S

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PAFAH1B1

NM_000430.4:p.R20S

hg38:chr17:2665397 C>A

Associated Papers

LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.

Herbst SM et al.

Brain & Development, 2016

26494205 (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."