Varaico: Literature-Extracted Genetic Variants

Gene:AGTR2
Variant:p.I53F
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AGTR2

NM_000686.5:p.I53F

Associated Papers

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

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

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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."