Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S1
Variant:p.D68N
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BLOC1S1

NM_001487.4:p.D68N

Associated Papers

Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.

Ngo KJ et al.

Npj Parkinson's Disease, 2024

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."