Publications:

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: HEXA: 948T>G; Tyr316*

PubMed Link: 33083013

Variant Present in the following documents:

• 41525_2020_150_MOESM1_ESM.pdf

View BVdb publication page