Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR3
Variant:p.E459G
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TGFBR3

NM_003243.5:p.E459G

Associated Papers

ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.

Zhang L et al.

Bmc Oral Health, 2025

40841909 (PubMed )
Supplement: 12903_2025_6717_MOESM2_ESM.xlsx › Sheet1

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Qin Y et al.

Maturitas, 2014

Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure.

Qin CR et al.

Reproductive Biomedicine Online, 2011

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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."