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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-1

Variant:p.R105_N106insFs

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NKX2-1

NM_003317.4:p.R105_N106insFs

hg38:chr14:36519040 G>GTTCC

Associated Papers

Functional characterization of two novel NKX2-1 frameshift variants that cause pulmonary surfactant dysfunction.

Wang H et al.

Pediatric Research, 2024

37935886 (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."