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Identical ref and alt alleles in PMID_35190816_STX_23708187_T23289.json
#155
opened Sep 27, 2024 by
yaseminbridges
all_phenopackets does not currently show Structural variants.
bug
Something isn't working
#93
opened May 21, 2024 by
pnrobinson
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
curation
#55
opened Nov 21, 2023 by
pnrobinson
ProTip!
Updated in the last three days: updated:>2024-11-12.