scholarly article | Q13442814 |
P356 | DOI | 10.1002/GEPI.21885 |
P698 | PubMed publication ID | 25631493 |
P50 | author | Andrew S Allen | Q89645870 |
P2093 | author name string | Yu Jiang | |
Janice M McCarthy | |||
P2860 | cites work | Molecular identification of a renal urate anion exchanger that regulates blood urate levels | Q24297979 |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis | Q24310146 | ||
A method and server for predicting damaging missense mutations | Q27860835 | ||
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia | Q28301600 | ||
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees | Q28535096 | ||
The Genotype-Tissue Expression (GTEx) project | Q28657968 | ||
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Using whole-exome sequencing to identify inherited causes of autism | Q30418126 | ||
Family-based association tests for sequence data, and comparisons with population-based association tests | Q30587122 | ||
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data | Q30721849 | ||
Search for compound heterozygous effects in exome sequence of unrelated subjects. | Q34176262 | ||
Rare variant analysis for family-based design | Q34558081 | ||
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders | Q36733238 | ||
Uncovering the roles of rare variants in common disease through whole-genome sequencing | Q37755970 | ||
Calibrating a coalescent simulation of human genome sequence variation | Q40510086 | ||
Testing for modes of inheritance involving compound heterozygotes | Q44985009 | ||
P433 | issue | 3 | |
P921 | main subject | heterozygosity | Q124059385 |
P304 | page(s) | 166-172 | |
P577 | publication date | 2015-01-28 | |
P1433 | published in | Genetic Epidemiology | Q5532864 |
P1476 | title | Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies. | |
P478 | volume | 39 |
Q36373886 | Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data |
Q35984136 | CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies |
Q89997206 | GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease |
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