Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.E323Q
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MMEL1

NM_033467.4:p.E323Q

Associated Papers

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Visschedijk MC et al.

Plos One, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
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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."