Publications:

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

Bmc Medical Genomics

Al Qurashi, Mansour M; Mustafa, Ahmed A; Aga, Syed Sameer SS; Ahmad, Abrar A; El-Farra, Abdellatif A; Shawli, Aiman A; Al Hindi, Mohammed M; Hasosah, Mohammed M

Publication Date: 2022-03-19

Variant appearance in text: HR: Ser328Gly

PubMed Link: 35305621

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1210.pdf

View BVdb publication page