Varaico: Literature-Extracted Genetic Variants

Gene:RRM2B
Variant:p.Y138*
Back to variants list

RRM2B

NM_015713.5:p.Y138*

Associated Papers

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

Grigalionienė K et al.

Orphanet Journal of Rare Diseases, 2023

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.

Iwanicka-Pronicka K et al.

International Journal of Pediatric Otorhinolaryngology, 2019

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."