Varaico: Literature-Extracted Genetic Variants

Gene:LAMB4
Variant:p.H234Y
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LAMB4

NM_007356.3:p.H234Y

Associated Papers

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Shah MH et al.

Indian Journal of Ophthalmology, 2021

Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.

Coble JL et al.

Human Molecular Genetics, 2017

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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."