Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.F178Y
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CDAN1

NM_138477.4:p.F178Y

Associated Papers

Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene.

Palmblad J et al.

American Journal of Hematology, 2018

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Babbs C et al.

Haematologica, 2013

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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."