Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.H658_D660del3
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PROS1

NM_000313.4:p.H658_D660del3

Associated Papers

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

Esser AJ et al.

Iscience, 2022

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene.

Wang S et al.

Frontiers in Neurology, 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."