Associated Papers
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM3_ESM.xlsx › recessive_inheritance
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
33452237 (PubMed )
Supplement: 41439_2020_133_MOESM1_ESM.xlsx › Sheet1
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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