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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:640888 G>A

Associated Papers

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

Hirschfeldova K et al.

Journal of Human Genetics, 2017

27708272 (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."