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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM8

Variant:p.S372_G373Fs

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TRIM8

NM_030912.3:p.S372_G373Fs

hg38:chr10:102656813 CT>C

Associated Papers

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Assoum M et al.

American Journal of Medical Genetics. Part A, 2018

30244534 (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."