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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAP1B

Variant:p.E1523K

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MAP1B

NM_005909.5:p.E1523K

hg38:chr5:72197922 G>A

Associated Papers

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Walters GB et al.

Nature Communications, 2018

30150678 (PubMed )

Supplement: 41467_2018_5595_MOESM1_ESM.pdf

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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."