Varaico: Literature-Extracted Genetic Variants

Gene:EXOC3L4
Variant:p.R30W
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EXOC3L4

NM_001077594.2:p.R30W

Associated Papers

Identification of Genes Associated with Familial Focal Segmental Glomerulosclerosis Through Transcriptomics and In Silico Analysis, Including RPL27, TUBB6, and PFDN5.

Mahmoud AH et al.

International Journal of Molecular Sciences, 2024

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1.1
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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."