Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.A2S
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MAPT

NM_001377265.1:p.A2S

Associated Papers

Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.

Shilo A et al.

Nucleic Acids Research, 2019

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Uncertain_Significance
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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."