Varaico: Literature-Extracted Genetic Variants

Gene:LAMB2
Variant:p.C493delFs
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LAMB2

NM_002292.4:p.C493delFs

Associated Papers

Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.

Williams AE et al.

Pediatric Nephrology (berlin, Germany), 2023

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

Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

Beaufils C et al.

Bone, 2018

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

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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."