Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS09_het
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis.
Yu LC et al.
Current Opinion in Hematology, 2011
A novel IGnT allele responsible for the adult i phenotype.
Lin M et al.
Transfusion, 2006
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
Pras E et al.
Investigative Ophthalmology & Visual Science, 2004
The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.
Yu LC et al.
Blood, 2003
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