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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGHMBP2

Variant:p.G569G

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IGHMBP2

NM_002180.3:p.G569G

hg38:chr11:68935373 C>T

Associated Papers

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Eckart M et al.

Pediatrics, 2012

22157136 (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."