Varaico: Literature-Extracted Genetic Variants

Gene:PABPC3
Variant:p.R501C
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PABPC3

NM_030979.3:p.R501C

Associated Papers

Novel variants in PABPC1L cause female infertility due to oocyte maturation defects.

Pan Z et al.

Journal of Assisted Reproduction and Genetics, 2026

Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.

Wang W et al.

Embo Molecular Medicine, 2023

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_6b

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Wen H et al.

Bmc Cancer, 2014

24969172 (PubMed )
Supplement: 1471-2407-14-470-S1.xlsx › Family_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."