Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.Q418*
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LAMB2

NM_002292.4:p.Q418*

Associated Papers

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.

Suzuki R et al.

Kidney International Reports, 2023

37705905 (PubMed )
Supplement: mmc1.pdf

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

Matejas V et al.

Human Mutation, 2010

Ophthalmological aspects of Pierson syndrome.

Bredrup C et al.

American Journal of Ophthalmology, 2008

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome.

Wühl E et al.

American Journal of Medical Genetics. Part A, 2007

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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."