Concepedia

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica–Worms, Joy Bryant,

Molecular Genetics and Metabolism · 2009 · 100 citations · 24 references

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24

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

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Allelic discrimination using fluorogenic probes and the 5′ nuclease assay

Kenneth J. Livak · Genetic Analysis Biomolecular Engineering · 1999 · 1.4K citations

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Prediction of deleterious human alleles

Shamil Sunyaev · Human Molecular Genetics · 2001 · 1K citations

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SNAP: predict effect of non-synonymous polymorphisms on function

Yana Bromberg, Burkhard Rost · Nucleic Acids Research · 2007 · 876 citations · Full text

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Allelic discrimination using fluorogenic probes and the 5' nuclease assay

T Foitzi · Medical Entomology and Zoology · 1999 · 783 citations

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