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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SENP7

Variant:p.R1030W

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SENP7

NM_020654.5:p.R1030W

hg38:chr3:101326008 G>A

Associated Papers

Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

Saad AK et al.

Clinical Genetics, 2025

39763084 (PubMed )

Supplement: supplement_1.docx

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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."