Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour.
Chand P et al.
Jpma. the Journal of the Pakistan Medical Association, 2023
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Carta E et al.
The Journal of Biological Chemistry, 2012
Select a paper to view details