Varaico: Literature-Extracted Genetic Variants

Gene:AMN
Variant:p.K54delFs
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AMN

NM_030943.4:p.K54delFs

Associated Papers

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report.

Ruan J et al.

Bmc Medical Genetics, 2020

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Tanner SM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

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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."