Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.M337delFs
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CBS

NM_000071.3:p.M337delFs

Associated Papers

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

Benussi L et al.

Neurobiology of Disease, 2009

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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."