Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.L297delFs
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SETD5

NM_001080517.3:p.L297delFs

Associated Papers

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Luppino G et al.

Genes, 2025

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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."