Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.L2M
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CYP21A2

NM_000500.9:p.L2M

Associated Papers

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.

Prado MJ et al.

International Journal of Molecular Sciences, 2021

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.

Dumic KK et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization.

Silva-Grecco RLD et al.

Molecular Genetics and Metabolism Reports, 2015

Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genes.

Duncan CG et al.

Oncotarget, 2010

21113414 (PubMed )
Supplement: oncotarget-01-265-s005.xlsx › S4._Illumina_GBM_Del

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.

Friães A et al.

Molecular Genetics and Metabolism, 2006

H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.

Lau IF et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

21-Hydroxylase deficiency in Brazil.

Bachega TA et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2000

E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Kirby-Keyser L et al.

Human Mutation, 1997

Comparative studies of the major histocompatibility complex in French Canadian and non-French Canadian Caucasians with systemic lupus erythematosus.

Goldstein R et al.

Arthritis and Rheumatism, 1993

Polymorphism in the RD (D6S45) gene.

White PC et al.

Human Genetics, 1992

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."