Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP4
Variant:p.R557*
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TUBGCP4

NM_014444.5:p.R557*

Associated Papers

Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.

Helms M et al.

Ophthalmic Genetics, 2026

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Tolezano GC et al.

Molecular Neurobiology, 2024

Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.

Yahalom C et al.

Ophthalmic Genetics, 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."