Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.H160L
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CITED2

NM_006079.5:p.H160L

Associated Papers

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

Jaillard S et al.

Molecular Human Reproduction, 2020

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B

Functional significance of SRJ domain mutations in CITED2.

Chen CM et al.

Plos One, 2012

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.

Sperling S et al.

Human Mutation, 2005

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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."