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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A2

Variant:p.M88_A89delFs

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SLC20A2

NM_001257180.2:p.M88_A89delFs

hg38:chr8:42472124 AGCCAT>A

Associated Papers

Novel findings in a Swedish primary familial brain calcification cohort.

Sennfält S et al.

Journal of the Neurological Sciences, 2024

38642488 (PubMed )

Hyperkinesias and Echolalia in Primary Familial Brain Calcification.

Paucar M et al.

Annals of Neurology, 2021

33170525 (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."