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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNXB

Variant:p.N4057I

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TNXB

NM_001365276.2:p.N4057I

hg38:chr6:32042495 T>A

Associated Papers

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.

Claps A et al.

Scientific Reports, 2025

40640193 (PubMed )

Supplement: 41598_2025_3799_MOESM1_ESM.docx

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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."