Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation
Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous,Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/gim.2017.22
Date:
April, 2017
File:
PDF, 1.15 MB
english, 2017