Varaico: Literature-Extracted Genetic Variants

Gene:RBM19
Variant:p.R143Q
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RBM19

NM_016196.4:p.R143Q

Associated Papers

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.

Michou L et al.

Joint Bone Spine, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline
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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."