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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHOX

Variant:p.G182Splc

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SHOX

NM_000451.4:p.G182Splc

hg38:chrX:640989 T>C

Associated Papers

Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

Capkova P et al.

Peerj, 2020

33240610 (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."