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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BICD2

Variant:p.L520P

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BICD2

NM_001003800.2:p.L520P

hg38:chr9:92719086 A>G

Associated Papers

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Ravenscroft G et al.

Journal of Medical Genetics, 2021

33060286 (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."