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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OXER1

Variant:p.F76fs

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OXER1

NM_148962.5:p.F76fs

hg38:chr2:42763835 G>GN

Associated Papers

Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report.

Lin WX et al.

World Journal of Clinical Cases, 2022

35097086 (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."