Associated Papers
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2020
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.
Ament AE et al.
British Journal of Haematology, 2009
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
Select a paper to view details