Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD27
Variant:p.N999Y
Back to variants list

ANKRD27

NM_032139.3:p.N999Y

Associated Papers

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A et al.

Human Molecular Genetics, 2023

36067010 (PubMed )
Supplement: supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx › HI-DEPDC5_commun_variants_
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."