Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q185_S186Splc
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FH

NM_000143.4:p.Q185_S186Splc

Associated Papers

Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome.

Foo T et al.

Familial Cancer, 2022

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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."