Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP2
Variant:p.R121*
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GTPBP2

NM_019096.5:p.R121*

Associated Papers

GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.

Murgiano L et al.

Scientific Reports, 2025

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Salpietro V et al.

American Journal of Human Genetics, 2024

38118446 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

D'Abrusco F et al.

Cerebellum (london, England), 2022

High grade serous ovarian carcinomas originate in the fallopian tube.

Labidi-Galy SI et al.

Nature Communications, 2017

29061967 (PubMed )
Supplement: 41467_2017_962_MOESM5_ESM.xlsx › 4
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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."