Varaico: Literature-Extracted Genetic Variants

Gene:RACGAP1
Variant:p.P432S
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RACGAP1

NM_001319999.2:p.P432S

Associated Papers

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.

Hernández G et al.

Haematologica, 2023

RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease.

Wontakal SN et al.

Blood, 2022

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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."