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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBX19

Variant:p.Q156_I157Splc

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TBX19

NM_005149.3:p.Q156_I157Splc

hg38:chr1:168293143 G>A

Associated Papers

[Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in TBX19].

Skorodok YL et al.

Problemy Endokrinologii, 2025

40734300 (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."