Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.A331V
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LDB3

NM_007078.3:p.A331V

Associated Papers

Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.

Belkadi A et al.

Bmc Medical Genomics, 2023

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_9

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3
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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."