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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XPR1

Variant:p.N608_H616del0

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XPR1

NM_004736.4:p.N608_H616del0

hg38:chr1:180880088 GAACTTCTTCCGCCTGGAGAATGAACAT>G

Associated Papers

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM et al.

European Journal of Human Genetics : Ejhg, 2018

29955172 (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."