Varaico: Literature-Extracted Genetic Variants

Gene:LRP1
Variant:p.V4136G
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LRP1

NM_002332.3:p.V4136G

Associated Papers

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

Mark PR et al.

Cold Spring Harbor Molecular Case Studies, 2022

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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."