Associated Papers
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.
Ferrand A et al.
Jimd Reports, 2015
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.
Chery C et al.
Biochimie, 2013
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF.
Overgaard UM et al.
British Journal of Haematology, 2010
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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