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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHOX

Variant:p.Q162_V163Splc

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SHOX

NM_000451.4:p.Q162_V163Splc

hg38:chrY:634828 T>C

Associated Papers

Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature.

Kohkalani M et al.

Molecular Biology Reports, 2025

41042407 (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."