Varaico: Literature-Extracted Genetic Variants

Gene:GNPTG
Variant:p.R296Q
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GNPTG

NM_032520.5:p.R296Q

Associated Papers

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1

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
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