Associated Papers
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.
Chin JJ et al.
Human Genetics, 2025
41020988 (PubMed )
Supplement: 439_2025_2782_MOESM1_ESM.xlsx › MORL-5
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
AitRaise I et al.
Biochemical Genetics, 2024
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
A Molecular Evolutionary Reference for the Human Variome.
Liu L et al.
Molecular Biology and Evolution, 2016
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.
Liu Y et al.
Plos One, 2016
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
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