Varaico: Literature-Extracted Genetic Variants

Gene:SUPT7L
Variant:p.N87fs
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SUPT7L

NM_014860.3:p.N87fs

Associated Papers

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Kopp J et al.

Human Genetics, 2024

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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."