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1
Q31125778-FA75C2A5-BCE2-407C-86BA-133CDA80B76D
Q31125778-FA75C2A5-BCE2-407C-86BA-133CDA80B76D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q31125778-FA75C2A5-BCE2-407C-86BA-133CDA80B76D
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.
P2860
Q31125778-FA75C2A5-BCE2-407C-86BA-133CDA80B76D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q31125778-FA75C2A5-BCE2-407C-86BA-133CDA80B76D
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
87ffe025de2bc66ddaa525ec8b51bdcf04a28e41
P2860
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.