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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Gender Identity and SRD5A2[original query]
Phenotype, genotype and gender identity in a large cohort of patients from India with 5a-reductase 2 deficiency.
Andrology 2015 Oct .
Shabir I, Khurana M L, Joseph A A, Eunice M, Mehta M, Ammini A
Homozygous p.Val89Leu plays an important pathogenic role in 5?-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
European journal of endocrinology 2020 6 183 (3): 275-284.
Arya Sneha, Tiwari Ankita, Lila Anurag Ranjan, Sarathi Vijaya, Bhandare Vishwambhar Vishnu, Kumbhar Bajarang Vasant, Rai Khushnandan, Kunwar Ambarish, Thakkar Hemangini, Thakkar Kunal, Memon Saba Samad, Patil Virendra, Khadilkar Kranti, Jadhav Swati S, Shah Nalini S, Bandgar Tush
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