Varaico: Literature-Extracted Genetic Variants

Gene:TEKTIP1
Variant:p.R38C
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TEKTIP1

NM_001135580.2:p.R38C

Associated Papers

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_18

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C et al.

Nature Genetics, 2013

23263490 (PubMed )
Supplement: NIHMS53122-supplement-1.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."