Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.L263_S266insFs
Back to variants list

ITM2B

NM_021999.5:p.L263_S266insFs

Associated Papers

Investigating ITM2B-associated ataxia in a Taiwanese cerebellar ataxia cohort.

Fang SY et al.

Annals of Clinical and Translational Neurology, 2025

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 2023

DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.

Nassisi M et al.

Retina (philadelphia, Pa.), 2021

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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."