Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.R1266Splc
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LAMB2

NM_002292.4:p.R1266Splc

Associated Papers

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Reis LM et al.

Progress in Retinal and Eye Research, 2024

An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing.

Sakuraya K et al.

Cen Case Reports, 2021

LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay.

Wang X et al.

Molecular Genetics & Genomic Medicine, 2021

Molecular mechanisms determining severity in patients with Pierson syndrome.

Minamikawa S et al.

Journal of Human Genetics, 2020

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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."