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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHOX2

Variant:p.Q234*

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SHOX2

NM_001163678.2:p.Q234*

hg38:chr3:158099862 G>A

Associated Papers

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Aza-Carmona M et al.

Plos One, 2014

24421874 (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."