Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.E133D
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SHOX

NM_000451.4:p.E133D

Associated Papers

Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.

Dantas NCB et al.

European Journal of Endocrinology, 2023

Short stature before puberty: which children should be screened for SHOX deficiency?

Wolters B et al.

Hormone Research in Paediatrics, 2013

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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."