Publications:

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Genes

Brodehl, Andreas A; Pour Hakimi, Seyed Ahmad SA; Stanasiuk, Caroline C; Ratnavadivel, Sandra S; Hendig, Doris D; Gaertner, Anna A; Gerull, Brenda B; Gummert, Jan J; Paluszkiewicz, Lech L; Milting, Hendrik H

Publication Date: 2019-11-11

Variant appearance in text: FBN1: V1436M; rs377338217

PubMed Link: 31718026

Variant Present in the following documents:

• genes-10-00918-s001.pdf

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 4306G>A; Val1436Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page