Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.I314S
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CP

NM_000096.4:p.I314S

Associated Papers

46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature.

Li Y et al.

Orphanet Journal of Rare Diseases, 2025

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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."