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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM231

Variant:p.I248fs

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TMEM231

NM_001077418.3:p.I248fs

hg38:chr16:75541378 GAT>N

Associated Papers

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Maglic D et al.

Human Mutation, 2016

27449316 (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."