Varaico: Literature-Extracted Genetic Variants

Gene:PADI6
Variant:p.R570H
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PADI6

NM_207421.4:p.R570H

Associated Papers

Structural insight into the function of human peptidyl arginine deiminase 6.

Williams JPC et al.

Computational and Structural Biotechnology Journal, 2024

39286527 (PubMed )
Supplement: mmc3.xlsx › Fig_6B

Pilot clinical trial and phenotypic analysis in chemotherapy-pretreated, metastatic triple-negative breast cancer patients treated with oral TAK-228 and TAK-117 (PIKTOR) to increase DNA damage repair deficiency followed by cisplatin and nab paclitaxel.

Lang JD et al.

Biomarker Research, 2023

37491309 (PubMed )
Supplement: 40364_2023_511_MOESM16_ESM.xlsx › 06BH

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Alhendi ASN et al.

Journal of Medical Genetics, 2022

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Eggermann T et al.

Clinical Epigenetics, 2022

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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."