INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. [electronic resource]
Producer: 20190911Description: 682-686 p. digitalISSN:- 1399-0004
- Adolescent
- Animals
- Cataract -- congenital
- Child
- Child, Preschool
- Computational Biology -- methods
- Consanguinity
- Female
- Genes, Recessive
- Genetic Variation
- Humans
- Infant
- Loss of Function Mutation
- Magnetic Resonance Imaging
- Male
- Pakistan
- Pedigree
- Phenotype
- Phosphoric Monoester Hydrolases -- chemistry
- Exome Sequencing
- Zebrafish
No physical items for this record
Publication Type: Case Reports; Journal Article
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