Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.C289S
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BBS9

NM_198428.3:p.C289S

Associated Papers

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 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."