Varaico: Literature-Extracted Genetic Variants

Gene:CP
Variant:p.L304L
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CP

NM_000096.4:p.L304L

Associated Papers

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.

Aprea I et al.

Frontiers in Genetics, 2023

36873931 (PubMed )
Supplement: DataSheet1.docx

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Beckers A et al.

Endocrine Reviews, 2013

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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."