Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.Q92H
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LMBRD1

NM_018368.4:p.Q92H

Associated Papers

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

Beck BB et al.

Pediatric Nephrology (berlin, Germany), 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."