Associated Papers
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM1_ESM.pdf
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
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