Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.Q196_I197Splc
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SURF1

NM_003172.4:p.Q196_I197Splc

Associated Papers

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.

Lopes Costa A et al.

Human Molecular Genetics, 2014

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.

Amiel J et al.

Prenatal Diagnosis, 2001

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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."