Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP4
Variant:p.R551*
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TUBGCP4

NM_014444.5:p.R551*

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

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

Yahalom C et al.

Ophthalmic Genetics, 2023

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

Shurygina MF et al.

Investigative Ophthalmology & Visual Science, 2020

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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."