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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P4HB

Variant:p.Y63*

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P4HB

NM_000918.4:p.Y63*

hg38:chr17:81859344 A>C

Associated Papers

Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.

Rameix-Welti MA et al.

European Journal of Immunology, 2007

17407100 (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."