Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE16
Variant:p.L537P
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ZFYVE16

NM_001284236.3:p.L537P

Associated Papers

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Charif M et al.

Frontiers in Genetics, 2015

26539208 (PubMed )
Supplement: Table_1.XLSX › Feuil1
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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."