Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L2
Variant:p.H118Q
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MAD2L2

NM_006341.4:p.H118Q

Associated Papers

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

Mamrak NE et al.

Blood Reviews, 2017

Biallelic inactivation of REV7 is associated with Fanconi anemia.

Bluteau D et al.

The Journal of Clinical Investigation, 2016

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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."