Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.S161P
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RPTN

NM_001122965.1:p.S161P

Associated Papers

Molecular and clinical features of papillary thyroid cancer in adult patients with a non-classical phenotype.

Zhou J et al.

Frontiers in Endocrinology, 2023

37124750 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema.

Bogari NM et al.

Journal of Infection and Public Health, 2020

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

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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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."