Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.A639T
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IGHMBP2

NM_002180.3:p.A639T

Associated Papers

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.

Taiana M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2022

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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."