Publications:

Normalization of ventricular function after cardiac contractility modulation in noncompaction cardiomyopathy heterozygous positive for a pathologic TTN gene variant.

Heartrhythm Case Reports

Hesselson, Aaron B AB; Hesselson, Heather H HH; Leung, Steve S; Vaidya, Gaurang G

Publication Date: 2022-06

Variant appearance in text: TTN: 899C>T

PubMed Link: 35774200

Variant Present in the following documents:

• Main text

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: TTN: 899C>T; T300M

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

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GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

International Journal Of Molecular Sciences

De Vilder, Eva Y G EY; Debacker, Jens J; Vanakker, Olivier M OM

Publication Date: 2017-01-25

Variant appearance in text: TMD: 899C>T

PubMed Link: 28125048

Variant Present in the following documents:

• Main text
• ijms-18-00240.pdf

View BVdb publication page