Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. Jalali-Sefid-Dashti, M, Nel, M, Heckmann, J M, & Gamieldien, J BMC Medical Genetics, 2018.
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers [link]Paper  doi  bibtex   
@article{Jalali-Sefid-Dashti2018,
	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=48bfaba9a1b042a1fba51f48d361f602},
	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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