Associated Papers
Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.
Zhang H et al.
Medicine, 2024
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R et al.
Ebiomedicine, 2023
37182269 (PubMed )
Supplement: mmc4.xlsx › Candidate_germline_variants
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
Myers KA et al.
Plos One, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391
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