Varaico: Literature-Extracted Genetic Variants

Gene:NAIP
Variant:p.D272G
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NAIP

NM_004536.3:p.D272G

Associated Papers

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Clermont O et al.

Human Mutation, 2004

Spinal muscular atrophy: molecular genetics and diagnostics.

Ogino S et al.

Expert Review of Molecular Diagnostics, 2004

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Ogino S et al.

Human Genetics, 2002

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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."