Varaico: Literature-Extracted Genetic Variants

Gene:TUBGCP2
Variant:p.R58C
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TUBGCP2

NM_006659.4:p.R58C

Associated Papers

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Niederhoffer KY et al.

American Journal of Medical Genetics. Part A, 2016

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Roosing S et al.

American Journal of Human Genetics, 2014

25018096 (PubMed )
Supplement: mmc1.pdf
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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."