Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. Jalali-Sefid-Dashti, M., Nel, M., Heckmann, J., & Gamieldien, J. BMC Medical Genetics, 2018.
Paper doi bibtex @article{jalali-sefid-dashti_exome_2018,
title = {Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers},
volume = {19},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85048280165&doi=10.1186%2Fs12881-018-0613-x&partnerID=40&md5=ab6be9508058eaa4968315712fdb740e},
doi = {10.1186/s12881-018-0613-x},
number = {1},
journal = {BMC Medical Genetics},
author = {Jalali-Sefid-Dashti, M. and Nel, M. and Heckmann, J.M. and Gamieldien, J.},
year = {2018},
}
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