Associated Papers
Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest.
Huang L et al.
Elife, 2023
37334967 (PubMed )
Supplement: elife-85649-table2-data1.zip › Table_2_-source_data_1.docx
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
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