IMRAN , Muhammad; SHAFAQ, Maryam; SHAFI, Nida; MAHMOOD, Amna; AKBAR, Syed Khalil; AWAIS , Shahida; RAZA, Syed Irfan. WHOLE EXOME SEQUENCING OF A PAKISTANI FAMILY SEGREGATING AUTOSOMAL RECESSIVE GAUCHER DISEASE TYPE I. Pakistan Journal of Physiology, [S. l.], v. 22, n. 1, p. 42–45, 2026. DOI: 10.69656/pjp.v22i1.1925. Disponível em: https://www.pjp.pps.org.pk/index.php/PJP/article/view/1925. Acesso em: 12 apr. 2026.