Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.R14P
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BBS5

NM_152384.3:p.R14P

Associated Papers

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.

Vintschger E et al.

European Journal of Human Genetics : Ejhg, 2023

36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020
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