Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G354Splc
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IGHMBP2

NM_002180.3:p.G354Splc

Associated Papers

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).

Wu S et al.

European Journal of Medical Genetics, 2018

Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.

Baughn J et al.

Pediatric Pulmonology, 2011

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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."