A novel missense variant in FLNC causes syndromic dominant cardiomyopathy in a large family

Christophersen Ingrid E.; Hald Øyvind H.; Sejersted Yngve; Kulseth Mari Ann; Evju Øyvind; Marshall Emily H.; Rypdal Karoline B.; Smedsrud Marit K.; Inga Sarma; Rosenberger Andreas D.; Jens Pahnke

A novel missense variant in FLNC causes syndromic dominant cardiomyopathy in a large family

Christophersen Ingrid E.
, Hald Øyvind H.
, Sejersted Yngve
, Kulseth Mari Ann
, Evju Øyvind
, Marshall Emily H.
, Rypdal Karoline B.
, Smedsrud Marit K.
, Inga Sarma
, Rosenberger Andreas D.
, Jens Pahnke

Zinātniskās darbības rezultāts: Devums žurnālam › Konferences tēzes (žurnālā) › koleģiāli recenzēts

Oriģinālvaloda	Angļu
Lapas (no-līdz)	514-515
Žurnāls	European Journal of Human Genetics
Sējums	31
Publikācijas statuss	Publicēts - 2023

OECD Zinātnes nozare

3. Medicīnas un veselības zinātnes

Citi faili un saites

https://www.nature.com/articles/s41431-023-01338-4

Citēt šo

@article{075cca5b178f4478ad12b6917a695060,

title = "A novel missense variant in FLNC causes syndromic dominant cardiomyopathy in a large family",

author = "\{Ingrid E.\}, Christophersen and \{{\O}yvind H.\}, Hald and Sejersted Yngve and \{Mari Ann\}, Kulseth and Evju {\O}yvind and \{Emily H.\}, Marshall and \{Karoline B.\}, Rypdal and \{Marit K.\}, Smedsrud and Inga Sarma and \{Andreas D.\}, Rosenberger and Jens Pahnke",

year = "2023",

language = "English",

volume = "31",

pages = "514--515",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

TY - JOUR

T1 - A novel missense variant in FLNC causes syndromic dominant cardiomyopathy in a large family

AU - Ingrid E., Christophersen

AU - Øyvind H., Hald

AU - Yngve, Sejersted

AU - Mari Ann, Kulseth

AU - Øyvind, Evju

AU - Emily H., Marshall

AU - Karoline B., Rypdal

AU - Marit K., Smedsrud

AU - Sarma, Inga

AU - Andreas D., Rosenberger

AU - Pahnke, Jens

PY - 2023

Y1 - 2023

UR - https://www.nature.com/articles/s41431-023-01338-4

M3 - Meeting abstract

SN - 1018-4813

VL - 31

SP - 514

EP - 515

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -