Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP4
Variant:p.G194fs
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TUBGCP4

NM_014444.5:p.G194fs

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

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA et al.

Plos Genetics, 2018

29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Scheidecker S et al.

American Journal of Human Genetics, 2015

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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."