Varaico: Literature-Extracted Genetic Variants

Gene:FTSJ1
Variant:p.E191Splc
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FTSJ1

NM_012280.4:p.E191Splc

Associated Papers

Division of labor in epitranscriptomics: What have we learnt from the structures of eukaryotic and viral multimeric RNA methyltransferases?

Graille M

Wiley Interdisciplinary Reviews. Rna, 2022

Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability.

Nagayoshi Y et al.

Science Advances, 2021

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Jensen LR et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

Takano K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008

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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."