Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.L1055_E1058delins
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ABCC9

NM_020297.4:p.L1055_E1058delins

Associated Papers

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

Kleinendorst L et al.

American Journal of Medical Genetics. Part A, 2026

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.

Gao J et al.

European Journal of Human Genetics : Ejhg, 2023

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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."