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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNOT2

Variant:p.*541L

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CNOT2

NM_014515.7:p.*541L

hg38:chr12:70353914 A>T

Associated Papers

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Niceta M et al.

Clinical Genetics, 2023

36224108 (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."