Tassja Kalm on Muck Rack

Tassja Kalm

As seen in: The American Journal of Human Genetics
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Articles

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

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By Claudia Schob, Tassja Kalm, Hanna Völler, Thatjana Gardeitchik
| The American Journal of Human Genetics Verified
Summary Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants.
Open in Who Shared Issue with article?

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

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By Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik
| rb.gy
Summary Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants.
Open in Who Shared Issue with article?

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

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By Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik
| uke.de
Research ExplorerPublicationsEtiological involvement of KCND1 variants in an X-linked neu... Abstract
Open in Who Shared Issue with article?
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