Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.I41V
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TMEM127

NM_017849.4:p.I41V

Associated Papers

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Takahashi K et al.

Human Genome Variation, 2018

30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › Sheet1

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.

Burnichon N et al.

European Journal of Endocrinology, 2011

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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."