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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGHMBP2

Variant:p.N895K

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IGHMBP2

NM_002180.3:p.N895K

hg38:chr11:68938255 C>A

Associated Papers

A new mutation of IGHMBP2 gene.

Guenther UP et al.

Pediatric Neurology, 2006

16458836 (PubMed )

A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.

Tachi N et al.

Pediatric Neurology, 2005

15797190 (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."