Associated Papers
Structural effect of the H992D/H418D mutation of angiotensin-converting enzyme in the Indian population: implications for health and disease.
Kulshreshtha A et al.
Journal of Biomolecular Structure & Dynamics, 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
When a "disease-causing mutation" is not a pathogenic variant.
Wang J et al.
Clinical Chemistry, 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
X linked mental retardation: a clinical guide.
Raymond FL
Journal of Medical Genetics, 2006
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
The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies.
Erdmann J et al.
Human Genetics, 2004
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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