Varaico: Literature-Extracted Genetic Variants

Gene:NUBP2
Variant:p.A112T
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NUBP2

NM_012225.4:p.A112T

Associated Papers

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.

Rushforth R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM2_ESM.pdf
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