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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFIB

Variant:p.L132S

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NFIB

NM_001190738.2:p.L132S

hg38:chr9:14307234 A>G

Associated Papers

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I et al.

American Journal of Human Genetics, 2018

30388402 (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."