Varaico: Literature-Extracted Genetic Variants

Gene:ALYREF
Variant:p.D3D
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ALYREF

NM_005782.4:p.D3D

Associated Papers

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Torrado M et al.

Npj Genomic Medicine, 2021

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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."