Varaico: Literature-Extracted Genetic Variants

Gene:RPP14
Variant:p.L114*
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RPP14

NM_007042.6:p.L114*

Associated Papers

Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.

Ng HY et al.

Hgg Advances, 2025

40528347 (PubMed )
Supplement: mmc2.pdf
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