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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRP2

Variant:p.C3150Y

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LRP2

NM_004525.3:p.C3150Y

hg38:chr2:169185899 C>T

Associated Papers

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Faridi R et al.

Clinical Genetics, 2023

36807241 (PubMed )

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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."