Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.R277P
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PKP3

NM_007183.4:p.R277P

Associated Papers

The potential of deep learning on the discovery of new genes implicated in differences of sex development.

von der Decken I et al.

Computational and Structural Biotechnology Journal, 2026

Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Ozgencil M et al.

Plos One, 2021

34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iWT2_2

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Gray B et al.

Heart Rhythm, 2016

Integrative analysis of mutational and transcriptional profiles reveals driver mutations of metastatic breast cancers.

Lee JH et al.

Cell Discovery, 2016

27625789 (PubMed )
Supplement: celldisc201625-s8.pdf

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F et al.

The Journal of Allergy and Clinical Immunology, 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."