Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.M753I
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REST

NM_005612.5:p.M753I

Associated Papers

Identification of biallelic variations of CEP70 in patients with male infertility.

Ruan T et al.

Frontiers in Endocrinology, 2023

36967801 (PubMed )
Supplement: Table_2.xlsx › Patient_1

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Wen H et al.

Bmc Cancer, 2014

24969172 (PubMed )
Supplement: 1471-2407-14-470-S1.xlsx › Family_3
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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."