Varaico: Literature-Extracted Genetic Variants

Gene:RAB27A
Variant:p.R187Q
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RAB27A

NM_183235.3:p.R187Q

Associated Papers

Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.

Zou J et al.

Frontiers in Neurology, 2023

Clinical and genetic features of Epstein-Barr virus-triggered late-onset primary hemophagocytic lymphohistiocytosis: Ten pedigrees study.

Gao L et al.

Clinical and Translational Medicine, 2021

Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.

Chen YP et al.

Journal of Parkinson's Disease, 2021

34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1

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

Salvage therapy with dose-escalating ruxolitinib as a bridge to allogeneic stem cell transplantation for refractory hemophagocytic lymphohistiocytosis.

Zhao Y et al.

Bone Marrow Transplantation, 2020

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