Varaico: Literature-Extracted Genetic Variants

Gene:ITM2B
Variant:p.I251V
Back to variants list

ITM2B

NM_021999.5:p.I251V

Associated Papers

The genetics of motor neuron disease in New Zealand.

Mrkela M et al.

Journal of the Neurological Sciences, 2025

Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.

Martín M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40314981 (PubMed )
Supplement: pnas.2415521122.sapp.pdf

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2018

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Giannoccaro MP et al.

Journal of Alzheimer's Disease : Jad, 2018

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."