Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.L62P
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SLC20A2

NM_001257180.2:p.L62P

Associated Papers

Expanding the phenotype associated with biallelic SLC20A2 variants.

D'Onofrio G et al.

European Journal of Human Genetics : Ejhg, 2023

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Guo XX et al.

Human Mutation, 2019

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.

Lamquet S et al.

Annals of Clinical and Translational Neurology, 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

Primary familial brain calcification: update on molecular genetics.

Taglia I et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Lemos RR et al.

Human Mutation, 2015

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Rubino E et al.

Journal of Neurology, 2014

The genetics of primary familial brain calcifications.

Westenberger A et al.

Current Neurology and Neuroscience Reports, 2014

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.

Chen WJ et al.

Gene, 2013

[Association between sequence variation of Env, Gag genes from the same source and HIV-1 disease progression and host genetic polymorphism].

Bai LS et al.

Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2007

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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."