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
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.
Qiu YL et al.
Hepatology (baltimore, Md.), 2017
28027573 (PubMed )
Supplement: HEP-65-1655-s001.pdf
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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