Varaico: Literature-Extracted Genetic Variants

Gene:CBX3
Variant:p.M1insFs
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CBX3

NM_016587.4:p.M1insFs

Associated Papers

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Bakhshalizadeh S et al.

Human Genetics, 2023

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.2.2-ClassUnknown_Splice
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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."