High error rate in a specific region of the CFTR gene may lead to false variant findings when using massively parallel sequencing in molecular diagnostics of cystic fibrosis

Number of the records: 1

Title	Isolated methylmalonic acidaemia in Slovakia
Author	Škopková Martina SAVEXEND ; SAVBIOMED - Ústav experimentálnej endokrinológie SAV
Co-authors	Brennerová Katarína
	Šaligová J.
	Potocnaková L.

	Radvánszky Ján 1982- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV

Source document	European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), pp. 1621-1621
Language	eng - English
Document kind	rozpis článkov z periodík (rzb)
Category	AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	abstrakt
Year	2019
Registered in	WOS

article

rok	CC	IF	IF Q (best)	JCR Av Jour IF Perc	SJR	SJR Q (best)	CiteScore
	N

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2019	2018	3.650	Q2	1.835	Q1

Number of the records: 1