Genetic & Genomic MedicineOrphanet Journal of Rare DiseasesPeer-reviewed
Genetic Insight into Birt-Hogg-Dube syndrome in Indian patients reveals novel mutations in FLCN
Anindita Ray, Esita Chattopadhyay, Richa Singh…·Bidyut Roy
The paper identifies novel FLCN mutations in Indian BHDS patients and highlights the role of MTHFR SNPs in disease diagnosis.
6 citations