Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.V2490_I2491Splc
Back to variants list

ANKRD11

NM_013275.6:p.V2490_I2491Splc

Associated Papers

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

He D et al.

Orphanet Journal of Rare Diseases, 2024

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

Amllal N et al.

Annals of Laboratory Medicine, 2024

ANKRD11 variants: KBG syndrome and beyond.

Parenti I et al.

Clinical Genetics, 2021

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."