Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.G1328R
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LAMB2

NM_002292.4:p.G1328R

Associated Papers

The clinical characteristics and genotype analysis of LAMB2 gene mutation.

Li G et al.

Frontiers in Medicine, 2024

Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.

Bando H et al.

Frontiers in Endocrinology, 2022

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

Kikkawa Y et al.

Jci Insight, 2021

33749661 (PubMed )
Supplement: jciinsight-6-145908-s063.pdf

Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.

Tahoun M et al.

The Journal of Clinical Endocrinology and Metabolism, 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."