Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.R466H
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HPS4

NM_022081.6:p.R466H

Associated Papers

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf
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