A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome
Abstract Background KBG syndrome is a rare autosomal dominant genetic disease mainly caused by pathogenic variants of ankyrin repeat domain-containing protein 11 (ANKRD11) or deletions involving ANKRD11. Herein, we report a novel de novo heterozygous frameshift ANKRD11 variant via whole exome sequen...
Na minha lista:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Livro |
| Publicado em: |
BMC,
2021-03-01T00:00:00Z.
|
| Assuntos: | |
| Acesso em linha: | Connect to this object online. |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|
Internet
Connect to this object online.3rd Floor Main Library
| Número de Chamada: |
A1234.567 |
|---|---|
| Cópia 1 | Disponível |