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Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India.

• Authors : Spolia, Akshi¹ (AUTHOR); Angural, Arshia^1,2 (AUTHOR); Sharma, Varun^1,3 (AUTHOR)

• Source: Scientific Reports. 5/15/2023, Vol. 13 Issue 1, p1-7. 7p.

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Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child - Report from a tertiary care center in South India.

• Authors : Kalaranjini KV; Department of Pathology, Sree Gokulam Medical College and Research Foundation, Venjaramoodu, Thiruvananthapuram, Kerala, India.; Glaxon JA

Subjects: ATP Binding Cassette Transporter, Subfamily B, Member 11/ATP Binding Cassette Transporter, Subfamily B, Member 11/ATP Binding Cassette Transporter, Subfamily B, Member 11/*genetics ; Cholestasis, Intrahepatic/Cholestasis, Intrahepatic/Cholestasis, Intrahepatic/*diagnosis ; Cholestasis, Intrahepatic/Cholestasis, Intrahepatic/Cholestasis, Intrahepatic/*geneticsCholestasis, progressive familial intrahepatic 2

• Source: Indian journal of pathology & microbiology [Indian J Pathol Microbiol] 2021 Jun; Vol. 64 (Supplement), pp. S146-S148.Publisher: Medknow Country of Publication: India NLM ID: 7605904 Publication Model: Print Cited Medium: Internet ISSN:

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Molecular analysis of alpha-thalassemia in Nepal: correlation with malaria endemicity.

• Authors : Sakai Y; Division of Disease Genes, Institute of Genetic Information, Kyushu University, Fukuoka, Japan.; Kobayashi S

Subjects: Malaria/Malaria/Malaria/*epidemiology ; Malaria/Malaria/Malaria/*genetics ; alpha-Thalassemia/alpha-Thalassemia/alpha-Thalassemia/*genetics

• Source: Journal of human genetics [J Hum Genet] 2000; Vol. 45 (3), pp. 127-32.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print)

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