Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Daan H H M VieringMarguerite HureauxKornelia NevelingFemke LattaMichael KwintAnne BlanchardMartin KonradRené J M BindelsKarl-Peter SchlingmannRosa Vargas-PoussouJeroen H F de BaaijPublished in: Journal of the American Society of Nephrology : JASN (2022)
Intronic pathogenic variants explain an important part of the missing heritability in Gitelman syndrome. Long-read sequencing should be considered in diagnostic workflows for Gitelman syndrome.
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