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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF150

Variant:p.M170I

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RNF150

NM_020724.2:p.M170I

hg38:chr4:140967848 C>G

Associated Papers

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Kruszka P et al.

American Journal of Human Genetics, 2019

31006510 (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."