Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ
Variant:p.V1002M
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POTEJ

NM_001277083.2:p.V1002M

Associated Papers

KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.

Gensemer C et al.

Iscience, 2025

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.

Gensemer C et al.

Research Square, 2024

Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models.

Deng N et al.

Breast Cancer Research : Bcr, 2022

36153537 (PubMed )
Supplement: 13058_2022_1540_MOESM2_ESM.xlsx › SuppTableS2

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

Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.

Cafri G et al.

Nature Communications, 2019

30683863 (PubMed )
Supplement: 41467_2019_8304_MOESM3_ESM.xlsx › Sheet1
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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."