Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.A25delFs
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F12

NM_000505.4:p.A25delFs

Associated Papers

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.

Xu F et al.

Orphanet Journal of Rare Diseases, 2024

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S et al.

Elife, 2015

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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."