Open AccessPhenogenon: Gene to phenotype associations for rare genetic diseases
Author(s) -
Nikolas Pontikos,
Cian Murphy,
Ismail Moghul,
Gavin Arno,
Kaoru Fujinami,
Yu Fujinami,
Dayyanah Sumodhee,
Susan M. Downes,
Andrew R. Webster,
Jing Yu
Publication year - 2020
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0230587
Subject(s) - phenotype , genetics , biology , exome sequencing , omim : online mendelian inheritance in man , exome , mendelian inheritance , population , gene , genetic heterogeneity , computational biology , bioinformatics , medicine , environmental health