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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGHMBP2

Variant:p.Q568*

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IGHMBP2

NM_002180.3:p.Q568*

hg38:chr11:68935368 C>T

Associated Papers

Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1.

Ikeda A et al.

Brain & Development, 2018

28899595 (PubMed )

Clinical diversity caused by novel IGHMBP2 variants.

Yuan JH et al.

Journal of Human Genetics, 2017

28202949 (PubMed )

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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."