Varaico: Literature-Extracted Genetic Variants

Gene:FTCD
Variant:p.A360V
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FTCD

NM_206965.2:p.A360V

Associated Papers

Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants.

Ryø LB et al.

The Journal of Allergy and Clinical Immunology, 2023

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
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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."