Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Clinical and genetic spectrum of GSD type 6 in Korea.
Hahn JW et al.
Orphanet Journal of Rare Diseases, 2023
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Luo X et al.
Human Mutation, 2022
Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
Zhan Q et al.
Medicine, 2021
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
Liu B et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Lu SQ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Deng J et al.
Frontiers in Genetics, 2019
30833958 (PubMed )
Supplement: Table_1.XLSX › susceptibility_genes
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