Publications:

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.

Genes

Cristofoli, Francesca F; Sorrentino, Elisa E; Guerri, Giulia G; Miotto, Roberta R; Romanelli, Roberta R; Zulian, Alessandra A; Cecchin, Stefano S; Paolacci, Stefano S; Miertus, Jan J; Bertelli, Matteo M; Maltese, Paolo Enrico PE; Chiurazzi, Pietro P; Stuppia, Liborio L; Castori, Marco M; Marceddu, Giuseppe G

Publication Date: 2021-11-25

Variant appearance in text: ABCA4: 1024_1032del

PubMed Link: 34946832

Variant Present in the following documents:

• Main text
• genes-12-01885.pdf

View BVdb publication page