Publications:

A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature.

Frontiers In Endocrinology

Aureli, Alessia A; Bocchini, Sarah S; Mariani, Michela M; Crinò, Antonino A; Cappa, Marco M; Fintini, Danilo D

Publication Date: 2023

Variant appearance in text: CP: V281L

PubMed Link: 37124733

Variant Present in the following documents:

• fendo-14-1148318.pdf

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Novel mutations in the kinase domain of BCR-ABL gene causing imatinib resistance in chronic myeloid leukemia patients.

Scientific Reports

Chandrasekhar, Chodimella C; Kumar, Pasupuleti Santhosh PS; Sarma, Potukuchi Venkata Gurunadha Krishna PVGK

Publication Date: 2019-02-20

Variant appearance in text: CP: 841G>T

PubMed Link: 30787317

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38672.pdf

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Protective human leucocyte antigen haplotype, HLA-DRB1*01-B*14, against chronic Chagas disease in Bolivia.

Plos Neglected Tropical Diseases

del Puerto, Florencia F; Nishizawa, Juan Eiki JE; Kikuchi, Mihoko M; Roca, Yelin Y; Avilas, Cinthia C; Gianella, Alberto A; Lora, Javier J; Velarde, Freddy Udalrico Gutierrez FU; Miura, Sachio S; Komiya, Norihiro N; Maemura, Koji K; Hirayama, Kenji K

Publication Date: 2012

Variant appearance in text: CP: V281L

PubMed Link: 22448298

Variant Present in the following documents:

• pntd.0001587.pdf

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