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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A1

Variant:p.Q147*

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SLC20A1

NM_005415.5:p.Q147*

hg38:chr2:112647428 C>T

Associated Papers

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

25686613 (PubMed )

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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."