Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP2
Variant:p.R333C
Back to variants list

TUBGCP2

NM_006659.4:p.R333C

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

TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.

Yu T et al.

Frontiers in Pediatrics, 2025

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

Gungor S et al.

Iscience, 2021

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

Mitani T et al.

American Journal of Human Genetics, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NGP
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."