Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.P354_E370delFs
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PMEL

NM_001384361.1:p.P354_E370delFs

Associated Papers

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Akinci G et al.

American Journal of Medical Genetics. Part A, 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."