Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.E368fs
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SLC20A2

NM_001257180.2:p.E368fs

Associated Papers

Expanding the phenotype associated with biallelic SLC20A2 variants.

D'Onofrio G et al.

European Journal of Human Genetics : Ejhg, 2023

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

Primary familial brain calcification: Genetic analysis and clinical spectrum.

Taglia I et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

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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."