Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.T83M
Back to variants list

SLC20A2

NM_001257180.2:p.T83M

Associated Papers

The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.

Lin Z et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Expanding the phenotype associated with biallelic SLC20A2 variants.

D'Onofrio G et al.

European Journal of Human Genetics : Ejhg, 2023

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.

Chen S et al.

Parkinsonism & Related Disorders, 2019

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Ding Y et al.

Chinese Medical Journal, 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."