Publications:

Systematic reanalysis of genomic data improves quality of variant interpretation.

Clinical Genetics

Hiatt, S M SM; Amaral, M D MD; Bowling, K M KM; Finnila, C R CR; Thompson, M L ML; Gray, D E DE; Lawlor, J M J JMJ; Cochran, J N JN; Bebin, E M EM; Brothers, K B KB; East, K M KM; Kelley, W V WV; Lamb, N E NE; Levy, S E SE; Lose, E J EJ; Neu, M B MB; Rich, C A CA; Simmons, S S; Myers, R M RM; Barsh, G S GS; Cooper, G M GM

Publication Date: 2018-07

Variant appearance in text: CSMD1: 1642A>G; Thr548Ala

PubMed Link: 29652076

Variant Present in the following documents:

• Main text

View BVdb publication page