Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.D343_V344insFs
Back to variants list

CALHM3

NM_001129742.2:p.D343_V344insFs

Associated Papers

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

Aguirre-Lamban J et al.

Investigative Ophthalmology & Visual Science, 2010

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."