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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAFAH1B1

Variant:p.L51S

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PAFAH1B1

NM_000430.4:p.L51S

hg38:chr17:2666050 T>C

Associated Papers

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G et al.

Acta Neuropathologica, 2011

21046408 (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."