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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TFCP2L1

Variant:p.Q427fs

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TFCP2L1

NM_014553.3:p.Q427fs

hg38:chr2:121231888 CTG>N

Associated Papers

Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.

Vaqueiro Graña M et al.

Pediatric Nephrology (berlin, Germany), 2026

40569305 (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."