Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP5
Variant:p.F727C
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TUBGCP5

NM_052903.6:p.F727C

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

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.

Gungor S et al.

Iscience, 2021

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

Maver A et al.

European Journal of Medical Genetics, 2019

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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."