Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.P44L
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SPAG5

NM_006461.4:p.P44L

Associated Papers

Search for chromosomal instability aiding variants reveal naturally occurring kinetochore gene variants that perturb chromosome segregation.

Islam A et al.

Iscience, 2024

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Weiss Y et al.

Molecular Genetics and Metabolism, 2019

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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."