Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family oleh Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir