Concepedia

Genetic analysis of consanguineous families presenting with congenital ocular defects

Ehsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, Neelam Shah, Muhammad Zubair, Muzammil Ahmad Khan, Iftikhar Ahmed, Ghazanfar Ali, Atanu Kumar Dutta, Sumita Danda,

Experimental Eye Research · 2016 · 22 citations · 28 references

DOI

Concepts

References

28

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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wANNOVAR: annotating genetic variants for personal genomes via the web

Xiao Chang, Kai Wang · Journal of Medical Genetics · 2012 · 461 citations · Full text

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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

E. Ferda Perçin, D. Jonathan Horsford, Bharati Bapat et al. · Nature Genetics · 2000 · 288 citations

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National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

Daniel R. Morrison · Journal of Medical Genetics · 2002 · 278 citations · Full text

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