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
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
Aksel Kiliçarslan Ö et al.
Turkish Journal of Medical Sciences, 2020
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ et al.
Clinical Genetics, 2008
Select a paper to view details