Varaico: Literature-Extracted Genetic Variants

Gene:MB
Variant:p.S4N
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MB

NM_005368.3:p.S4N

Associated Papers

Case Report: Pulmonary arterial hypertension in children caused by a new mutation in the BMPR2 gene.

Tang T et al.

Frontiers in Pediatrics, 2025

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.

Morton DJ et al.

Plos Genetics, 2020

Importance of the evolutionarily conserved glycine residue in the N-terminal region of human cystatin C (Gly-11) for cysteine endopeptidase inhibition.

Hall A et al.

The Biochemical Journal, 1993

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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."