Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G354D
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IGHMBP2

NM_002180.3:p.G354D

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

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.

Giannini A et al.

Intensive Care Medicine, 2006

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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."