Papers: 10.1186/s12881-017-0399-2
https://doi.org/10.1186/s12881-017-0399-2
Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders
Cited by: 7
Author(s): Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeshi Kato
Published: over 8 years ago
Software Mentions 3
bioconductor: GenomicRanges
Representation and manipulation of genomic intervalsPapers that mentioned: 323
Very Likely Science (90)
bioconductor: IRanges
Foundation of integer range manipulation in BioconductorPapers that mentioned: 62
Very Likely Science (75)
Very Likely Science (65)