Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G683fs
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IGHMBP2

NM_002180.3:p.G683fs

Associated Papers

Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation.

Chiu ATG et al.

Child Neurology Open, 2018

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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."