Varaico: Literature-Extracted Genetic Variants

Gene:TRIM54
Variant:p.G12R
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TRIM54

NM_187841.3:p.G12R

Associated Papers

Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.

Ma A et al.

Jci Insight, 2023

36752199 (PubMed )
Supplement: jciinsight-8-166869-s010.xlsx › Sheet2
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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."