Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.S2011_P2014delFs
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ANKRD11

NM_013275.6:p.S2011_P2014delFs

Associated Papers

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

Guo L et al.

European Journal of Human Genetics : Ejhg, 2022

35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul

Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.

Elander J et al.

Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0

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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."