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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHOX

Variant:p.G182ins12

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SHOX

NM_000451.4:p.G182ins12

hg38:chrX:640877 A>AGGTGGGTGTCGGGACTGGGGGGACCTGAAGCTGGGG

Associated Papers

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.

Vodopiutz J et al.

Genes, 2023

37107635 (PubMed )

Supplement: genes-14-00877-s001.zip › genes-2282589-supplementary.pdf

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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."