Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.R16C
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P4HB

NM_000918.4:p.R16C

Associated Papers

Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site.

Bignone PA et al.

The Biochemical Journal, 2003

Ankyrin gene mutations in japanese patients with hereditary spherocytosis.

Nakanishi H et al.

International Journal of Hematology, 2001

[Etiology of hereditary spherocytosis].

Yawata Y

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1979

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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."