Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q347*
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PRKN

NM_004562.3:p.Q347*

Associated Papers

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y et al.

Frontiers in Pediatrics, 2020

Lung Cancer Patients with Germline Mutations Detected by Next-Generation Sequencing and/or Liquid Biopsy.

Shukuya T et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."