Varaico: Literature-Extracted Genetic Variants

Gene:TFB2M
Variant:p.H264Y
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TFB2M

NM_022366.3:p.H264Y

Associated Papers

Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.

Frye RE et al.

Neurobiology of Disease, 2024

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data

Autism spectrum disorder: A mitochondrial disorder.

Finsterer J

Iranian Journal of Child Neurology, 2021

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives.

Citrigno L et al.

International Journal of Molecular Sciences, 2020

Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder.

Park CB et al.

Biochemical and Biophysical Research Communications, 2018

Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.

Alonso-Montes C et al.

Disease Markers, 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."