Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.K38delFs
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IGHMBP2

NM_002180.3:p.K38delFs

Associated Papers

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

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

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K et al.

Annals of Neurology, 2003

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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."