Varaico: Literature-Extracted Genetic Variants

Gene:WDR48
Variant:p.E629del1
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WDR48

NM_020839.4:p.E629del1

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

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG60
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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."