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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFIA

Variant:p.L75P

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NFIA

NM_001134673.4:p.L75P

hg38:chr1:61088345 T>C

Associated Papers

Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.

Bertini V et al.

Genes, 2022

36553517 (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."