Varaico: Literature-Extracted Genetic Variants

Gene:TEKT1
Variant:p.R254C
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TEKT1

NM_053285.2:p.R254C

Associated Papers

XAF1 as a modifier of p53 function and cancer susceptibility.

Pinto EM et al.

Science Advances, 2020

32637605 (PubMed )
Supplement: aba3231_Table_S1.xlsx › Table_S1

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S3

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.s007.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."