Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2B
Variant:p.S275N
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TUBB2B

NM_178012.5:p.S275N

Associated Papers

Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.

Zhu X et al.

Prenatal Diagnosis, 2025

Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients.

Sun H et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.

Zhu X et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

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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."