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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNXB

Variant:p.A282S

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TNXB

NM_032470.4:p.A282S

hg38:chr6:32043530 C>A

Associated Papers

[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].

Doleschall M et al.

Orvosi Hetilap, 2018

29429350 (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."