Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S647Fs
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ANKRD11

NM_013275.6:p.S647Fs

Associated Papers

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Martinez-Cayuelas E et al.

Journal of Medical Genetics, 2023

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Álvarez-Mora MI et al.

Orphanet Journal of Rare Diseases, 2022

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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."