Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.V40M
Back to variants list

MFAP1

NM_005926.3:p.V40M

Associated Papers

Specific Mutations Reverse Regulatory Effects of Adenosine Phosphates and Increase Their Binding Stoichiometry in CBS Domain-Containing Pyrophosphatase.

Anashkin VA et al.

International Journal of Molecular Sciences, 2024

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.

Dongerdiye R et al.

Bmc Medical Genomics, 2021

[Rare case of hereditary nonspherocytic anemia caused by glyceraldehydephosphate dehydrogenase deficiency in erythrocytes].

Reznik BIa et al.

Problemy Gematologii I Perelivaniia Krovi, 1972

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."