Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.R253*
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MAD2L1BP

NM_014628.3:p.R253*

Associated Papers

Mosaic variegated aneuploidy in development, ageing and cancer.

Malumbres M et al.

Nature Reviews. Genetics, 2024

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

Abdel-Salam GMH et al.

Jci Insight, 2023

Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest.

Huang L et al.

Elife, 2023

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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."