Varaico: Literature-Extracted Genetic Variants

Gene:EGR1
Variant:p.Q234*
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EGR1

NM_001964.3:p.Q234*

Associated Papers

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Corbeau J et al.

Genetics, Selection, Evolution : Gse, 2024

38773368 (PubMed )
Supplement: 12711_2024_909_MOESM4_ESM.xlsx › S2

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2009

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

Aguirre-Lamban J et al.

The British Journal of Ophthalmology, 2009

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lambán J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lambán J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Maia-Lopes S et al.

Human Genetics, 2008

Gene symbol: ABCA4. Disease: Macular dystrophy.

Maia-Lopes S et al.

Human Genetics, 2008

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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."