Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.L233R
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HPS6

NM_024747.6:p.L233R

Associated Papers

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val4

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

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E et al.

Plos One, 2017

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M et al.

Journal of Medical Genetics, 2009

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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."