Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated individuals with similar phen...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Genet
Egile Nagusiak: Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H., Al Harbi, Naffaa, Aldhalaan, Hesham M., Alzaidan, Hamad, Almanea, Hadeel M., Alsalamah, Abrar K., Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimée M., Alkuraya, Fowzan S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2020
Gaiak:
Genetics
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7806527/
https://ncbi.nlm.nih.gov/pubmed/33456446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.580484
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