Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.V79del1
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LAMB2

NM_002292.4:p.V79del1

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

Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.

Kikkawa Y et al.

Jci Insight, 2021

Laminin Polymerization and Inherited Disease: Lessons From Genetics.

Shaw L et al.

Frontiers in Genetics, 2021

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

Matejas V et al.

Human Mutation, 2010

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

Ophthalmological aspects of Pierson syndrome.

Bredrup C et al.

American Journal of Ophthalmology, 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."