SLC35D3 c.984C>G ;(p.D328E)

Variant ID: 6-137245567-C-G

NM_001008783.1(SLC35D3):c.984C>G;(p.D328E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25469153
Variant Present in the following documents:
View BVdb publication page