Associated Papers
Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report.
Mäntylä S et al.
Acta Neuropathologica Communications, 2026
41508055 (PubMed )
Supplement: 40478_2025_2209_MOESM6_ESM.xlsx › Sheet1
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf
Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families.
Babar ME et al.
Iranian Journal of Public Health, 2022
Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.
Shah MH et al.
Indian Journal of Ophthalmology, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context.
Stearman RS et al.
American Journal of Respiratory and Critical Care Medicine, 2019
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A09R-01A.domain
Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.
Corral J et al.
Haematologica, 2004
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Huizing M et al.
Traffic (copenhagen, Denmark), 2000
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