Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.P128delFs
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SOX2

NM_003106.4:p.P128delFs

Associated Papers

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.

Jia A et al.

Pharmacogenomics and Personalized Medicine, 2023

Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.

Mei HF et al.

World Journal of Pediatrics : Wjp, 2021

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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."