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TheJacksonLaboratory
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LIRICAL
LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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Check curation accuracy
#443
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pnrobinson
closed
4 years ago
pnrobinson
commented
4 years ago
[x] Yalcin-Cakmakli-2014-FBXO7-ANK-07.json – variant should be homozygous
[x] I thinkReyes-de_la_Rosa-2018-JAG1-Proband.json – should be het
[x] Bulut-2017-SETBP1-proposita.json – should be het
[x] Inlora-2017-APTX-V-3.json – should be hom
[x] Guo-2018-KMT2D-3_month_old_boy.json – gene should be KDM6A I think
pnrobinson
commented
4 years ago
fixed!