Associated Papers
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
A novel nonsense variant in MED12 associated with malformations in a female fetus.
Faergeman SL et al.
Clinical Case Reports, 2021
34987808 (PubMed )
Supplement: CCR3-9-e05124-s001.xlsx › _Variants_123__Filter_Variants
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 › 2._minor_allele_frequency_1
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
Duverger O et al.
Plos Genetics, 2018
The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.
Brohl AS et al.
Scientific Reports, 2017
29118384 (PubMed )
Supplement: 41598_2017_15183_MOESM1_ESM.pdf
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