Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.L337L
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ABCB7

NM_001271696.3:p.L337L

Associated Papers

X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.

Maguire A et al.

British Journal of Haematology, 2001

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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."