Varaico: Literature-Extracted Genetic Variants

Gene:TFB1M
Variant:p.G65A
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TFB1M

NM_016020.4:p.G65A

Associated Papers

Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.

Raimundo N et al.

Cell, 2012

Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.

Cotney J et al.

Human Molecular Genetics, 2009

Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity.

McCulloch V et al.

Molecular and Cellular Biology, 2003

Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop.

Seidel-Rogol BL et al.

Nature Genetics, 2003

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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."