Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.N509fs
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SLC20A2

NM_001257180.2:p.N509fs

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

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Nicolas G et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2015

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

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

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Nicolas G et al.

Brain : a Journal of Neurology, 2013

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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."