Varaico: Literature-Extracted Genetic Variants

Gene:POTEC
Variant:p.A119T
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POTEC

NM_001137671.2:p.A119T

Associated Papers

Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Kim TM et al.

Bmc Cancer, 2020

33287735 (PubMed )
Supplement: 12885_2020_7684_MOESM2_ESM.xlsx › Sheet1

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing

Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer.

Lee WK et al.

International Journal of Molecular Sciences, 2018

30241415 (PubMed )
Supplement: ijms-19-02867-s001.zip › ijms-347887-for_final_check-Supplementary_Material.pdf

Translocational renal cell carcinoma (t(6;11)(p21;q12) with transcription factor EB (TFEB) amplification and an integrated precision approach: a case report.

Lilleby W et al.

Journal of Medical Case Reports, 2015

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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."