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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFIX

Variant:p.H341delFs

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NFIX

NM_001271044.3:p.H341delFs

hg38:chr19:13078700 AC>A

Associated Papers

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Testa B et al.

Genes, 2023

36833222 (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."