Associated Papers
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
Bai R et al.
Clinical Genetics, 2020
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