Biswas, Pooja <br/><br/>
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.  [electronic resource] 

 -  Advances in experimental medicine and biology  2018 
 - 219-228 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0065-2598 
<br/><br/><label>Standard No.: </label>10.1007/978-3-319-75402-4_27  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Chromosomes, Human, Pair 11--genetics<br/>Consanguinity<br/>Conserved Sequence<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins--chemistry<br/>Genes, Recessive<br/>Genetic Linkage<br/>Humans<br/>INDEL Mutation<br/>Pakistan<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Retinal Degeneration--genetics<br/>Sequence Alignment<br/>Sequence Homology, Amino Acid<br/>Species Specificity<br/>Transcription Factors--chemistry<br/>Exome Sequencing