Varaico: Literature-Extracted Genetic Variants

Gene:TUBB3
Variant:p.P243L
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TUBB3

NM_006086.4:p.P243L

Associated Papers

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

TUBB3 and KIF21A in neurodevelopment and disease.

Puri D et al.

Frontiers in Neuroscience, 2023

Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.

Yaron Y et al.

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

Whole-exome sequencing in fetuses with central nervous system abnormalities.

Reches A et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2018

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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."