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Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2004, Volume 101, Issue 47, pp. 16588 - 16593
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2010, Volume 107, Issue 4, pp. 1488 - 1493
Journal Article
Human Mutation, ISSN 1059-7794, 06/2011, Volume 32, Issue 6, pp. 610 - 619
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2008, Volume 105, Issue 11, pp. 4242 - 4246
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2018, Volume 103, Issue 5, pp. 1834 - 1841
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2017, Volume 13, Issue 10, pp. e1007057 - e1007057
Journal Article
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2012, Volume 21, Issue 9, pp. 1945 - 1953
There are numerous genes for which loss-of-function mutations do not produce apparent phenotypes even though statistically significant quantitative changes to... 
COUPLED-RECEPTORS | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN OBESITY SYNDROME | MOUSE MODEL | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | SYNDROME GENE | INTRAFLAGELLAR TRANSPORT | HEDGEHOG SIGNAL-TRANSDUCTION | PRIMARY CILIA | Bardet-Biedl Syndrome - metabolism | Microtubule-Associated Proteins - genetics | Receptors, G-Protein-Coupled - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Hedgehog Proteins - metabolism | Male | Transfection | Hedgehog Proteins - genetics | Smoothened Receptor | Tumor Suppressor Proteins - genetics | Bardet-Biedl Syndrome - genetics | Female | Patched Receptors | Recombinant Proteins - metabolism | Tumor Suppressor Proteins - metabolism | Signal Transduction | Cells, Cultured | Mutant Proteins - genetics | Receptors, Cell Surface - metabolism | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Cilia - metabolism | Mice, Knockout | Pregnancy | Phenotype | Animals | Mice | Receptors, G-Protein-Coupled - genetics | Patched-1 Receptor | Receptors, Cell Surface - genetics | Edema | Limbs | Obesity | retinal degeneration | Retinopathy | Statistical analysis | Diabetes mellitus | Bardet-Biedl syndrome | Lethality | Embryos | Kidney | Patched protein | Hereditary diseases | Embryogenesis | Hedgehog protein | Infertility | Exencephaly | Polydactyly | Cilia | Index Medicus
Journal Article