Varaico: Literature-Extracted Genetic Variants

Gene:TMEM120B
Variant:p.Q218E
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TMEM120B

NM_001080825.2:p.Q218E

Associated Papers

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.

Labonne JD et al.

Human Genetics, 2016

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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."