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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:F12

Variant:p.P21L

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F12

NM_000505.4:p.P21L

hg38:chr5:177409099 G>A

Associated Papers

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.

Aljabry M et al.

Journal of Medical Case Reports, 2023

38057855 (PubMed )

Factor XII deficiency: a clinical and molecular genetic study.

Demidova E et al.

International Journal of Hematology, 2023

36627437 (PubMed )

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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."