Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.Y273C
Back to variants list

DKC1

NM_001363.5:p.Y273C

Associated Papers

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Sanchis-Juan A et al.

Frontiers in Genetics, 2019

31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1
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."