Varaico: Literature-Extracted Genetic Variants

Gene:FATE1
Variant:p.E36Splc
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FATE1

NM_033085.3:p.E36Splc

Associated Papers

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Chen JM et al.

Current Genomics, 2020

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.

Lin JH et al.

Human Mutation, 2019

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