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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-1

Variant:p.A327fs

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NKX2-1

NM_001079668.3:p.A327fs

hg38:chr14:36517505 CGC>N

Associated Papers

NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.

Shetty VB et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

24129101 (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."