Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.A170D
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SHOX

NM_000451.4:p.A170D

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Tooze RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

37154149 (PubMed )
Supplement: mmc2.pdf

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Barca-Tierno V et al.

European Journal of Human Genetics : Ejhg, 2011

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