Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.Y440_D441insFs
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SOX9

NM_000346.4:p.Y440_D441insFs

Associated Papers

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Lindelöf H et al.

European Journal of Human Genetics : Ejhg, 2025

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Westenius E et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024

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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."