Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.L37fs
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IGHMBP2

NM_002180.3:p.L37fs

Associated Papers

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.

Basel-Vanagaite L et al.

Genetic Testing, 2008

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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."