Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Atlı E et al.
Balkan Medical Journal, 2023
Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.
Guo L et al.
Molecular Genetics & Genomic Medicine, 2020
32875726 (PubMed )
Supplement: MGG3-8-e1478-s001.pdf
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Hiatt SM et al.
Plos Genetics, 2018
30500825 (PubMed )
Supplement: pgen.1007671.s002.pdf
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