Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.V507fs
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SLC20A2

NM_001257180.2:p.V507fs

Associated Papers

Expanding the phenotype associated with biallelic SLC20A2 variants.

D'Onofrio G et al.

European Journal of Human Genetics : Ejhg, 2023

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.

Giorgio E et al.

Journal of Human Genetics, 2019

PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B.

Ma XX et al.

Scientific Reports, 2017

O056. Migraine as presenting symptom of SLC20A2gene mutations.

Rubino E et al.

The Journal of Headache and Pain, 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

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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."