Varaico: Literature-Extracted Genetic Variants

Gene:AFG2B
Variant:p.A41P
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AFG2B

NM_024063.3:p.A41P

Associated Papers

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Berry JG et al.

Ebiomedicine, 2025

41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.

Dai Y et al.

Nature Communications, 2025

40268917 (PubMed )
Supplement: 41467_2025_58894_MOESM3_ESM.xlsx › 2._SPATA5L1

The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity.

Krishnamoorthy V et al.

Cell, 2024

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
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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."