TY  - RPRT
TI  - A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.
AU  - Tehmeena Akhter
AU  - Sami Khan
AU  - Ahmed Abdul Mumeen
AU  - Muhammad Asif Naeem
AU  - Sheikh Riazuddin
AU  - Saima Riazuddin
PY  - 2026
DO  - 10.1016/j.bbrep.2026.102764
UR  - https://pubmed.ncbi.nlm.nih.gov/42732216/
ID  - 42732216
ER  -