Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP2
Variant:p.D1922delFs
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HIVEP2

NM_006734.4:p.D1922delFs

Associated Papers

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Sirchia F et al.

Pediatric Neurology, 2026

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Malhotra A et al.

Hgg Advances, 2025

40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
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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."