Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A3
Variant:p.A520E
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SLC18A3

NM_003055.3:p.A520E

Associated Papers

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.

Masingue M et al.

Scientific Reports, 2023

37640745 (PubMed )
Supplement: 41598_2023_41008_MOESM3_ESM.pdf

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
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