Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.C1423delFs
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LAMB2

NM_002292.4:p.C1423delFs

Associated Papers

The clinical characteristics and genotype analysis of LAMB2 gene mutation.

Li G et al.

Frontiers in Medicine, 2024

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Matejas V et al.

Human Mutation, 2010

Variable phenotype of Pierson syndrome.

Choi HJ et al.

Pediatric Nephrology (berlin, Germany), 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."