Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.L577R
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IGHMBP2

NM_002180.3:p.L577R

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

Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia.

Han C et al.

Brain & Development, 2015

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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."