Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.S77T
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PEX13

NM_002618.4:p.S77T

Associated Papers

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.

Cousyn L et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

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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."