Varaico: Literature-Extracted Genetic Variants

Gene:AGTR2
Variant:p.R324Q
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AGTR2

NM_000686.5:p.R324Q

Associated Papers

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

AGT rs699 and AGTR1 rs5186 gene variants are associated with cardiovascular-related phenotypes in atherosclerotic peripheral arterial obstructive disease.

Junusbekov Y et al.

Irish Journal of Medical Science, 2020

Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients.

Miranda DM et al.

Nephrology (carlton, Vic.), 2014

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL et al.

Human Mutation, 2014

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Piton A et al.

American Journal of Human Genetics, 2013

Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation.

Huang D et al.

American Journal of Medical Genetics. Part A, 2005

Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.

Ylisaukko-oja T et al.

Human Genetics, 2004

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Bienvenu T et al.

Journal of Medical Genetics, 2003

AGTR2 mutations in X-linked mental retardation.

Vervoort VS et al.

Science (new York, N.y.), 2002

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