Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.N347D
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TUBB8

NM_177987.3:p.N347D

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Functional Analysis of a Novel Missense Mutation c.1039A > G of TUBB8 in Infertile Women.

Guo M et al.

Biochemical Genetics, 2025

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Stenton SL et al.

Human Genomics, 2024

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Stenton SL et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."