Varaico: Literature-Extracted Genetic Variants

Gene:CCNH
Variant:p.I226delFs
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CCNH

NM_001239.4:p.I226delFs

Associated Papers

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Zheng W et al.

Orphanet Journal of Rare Diseases, 2023

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Zbar B et al.

Human Mutation, 1996

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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."