Varaico: Literature-Extracted Genetic Variants

Gene:MPI
Variant:p.R152L
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MPI

NM_002435.3:p.R152L

Associated Papers

Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.

Lu S et al.

Frontiers in Pediatrics, 2023

[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].

Lin XM et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013

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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."