Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.L541P
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LRP5

NM_002335.4:p.L541P

Associated Papers

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Kamenarova K et al.

Molecular Genetics & Genomic Medicine, 2022

35656873 (PubMed )
Supplement: MGG3-10-e1997-s001.docx

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

Keser V et al.

Investigative Ophthalmology & Visual Science, 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."