Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from A novel variant combination in COASY associates with severe prenatal onset PCH12: expanding the clinical and genetic spectrum. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1152/ajpendo.1985.248.1.e1
10.1152/ajpendo.1985.248.1.e1 · 1985 · External reference
10.1074/jbc.c200195200
10.1074/jbc.c200195200 · 2002 · External reference
10.1074/jbc.m201708200
10.1074/jbc.m201708200 · 2002 · External reference
10.3390/ijms24065951
10.3390/ijms24065951 · 2023 · External reference
10.1016/j.ajhg.2013.11.008
10.1016/j.ajhg.2013.11.008 · 2014 · External reference
10.1002/ajmg.a.38252
10.1002/ajmg.a.38252 · 2017 · External reference
10.1016/j.parkreldis.2016.03.011
10.1016/j.parkreldis.2016.03.011 · 2016 · External reference
10.4103/aian.aian_456_23
10.4103/aian.aian_456_23 · 2023 · External reference
10.1038/s41431-018-0233-0
10.1038/s41431-018-0233-0 · 2018 · External reference
10.1002/ajmg.a.62768
10.1002/ajmg.a.62768 · 2022 · External reference
10.1007/s10048-023-00712-0
10.1007/s10048-023-00712-0 · 2023 · External reference
10.1111/cge.13951
10.1111/cge.13951 · 2021 · External reference
10.1002/ajmg.a.63076
10.1002/ajmg.a.63076 · 2023 · External reference
10.1007/s12098-023-04515-x
10.1007/s12098-023-04515-x · 2023 · External reference
10.1002/acn3.52079
10.1002/acn3.52079 · 2024 · External reference
10.1002/mdc3.13624
10.1002/mdc3.13624 · 2023 · External reference
10.1038/s41421-023-00641-0
10.1038/s41421-023-00641-0 · 2024 · External reference
10.3390/ijms21249707
10.3390/ijms21249707 · 2020 · External reference
10.1038/srep37660
10.1038/srep37660 · 2016 · External reference
10.1007/s00018-025-05576-1
10.1007/s00018-025-05576-1 · 2025 · External reference
