Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.K695*
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IGHMBP2

NM_002180.3:p.K695*

Associated Papers

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.

Luan X et al.

Brain & Development, 2016

Early infantile sensory-motor neuropathy with late onset respiratory distress.

Blaschek A et al.

Neuromuscular Disorders : Nmd, 2014

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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."