Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
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Medcomm, 2025
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Supplement: MCO2-6-e70394-s001.xlsx › TableS13
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1
Genetic Analysis of ZNF Protein Family Members for Early-Onset Parkinson's Disease in Chinese Population.
Li CY et al.
Molecular Neurobiology, 2021
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
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