Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.V202M
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COQ3

NM_017421.4:p.V202M

Associated Papers

Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.

Wang S et al.

Antioxidants (basel, Switzerland), 2022

36552517 (PubMed )
Supplement: antioxidants-11-02308-s001.zip › antioxidants-2022643-supplementary.xlsx › Table_S1._List_of_SNVs

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants
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