Varaico: Literature-Extracted Genetic Variants

Gene:TUBA8
Variant:p.V323M
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TUBA8

NM_018943.3:p.V323M

Associated Papers

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Marinakis NM et al.

Clinical Genetics, 2026

40550703 (PubMed )
Supplement: CGE-109-176-s001.xlsx › Transcripts

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_2__manuscript_supplementary_material_.xlsx › Variant_details

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Rossetti R et al.

Frontiers in Endocrinology, 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."