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Villem Pata

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Articles

Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets

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By Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand
| medRxiv
HLR receives research funding from Microsoft and previously received funding from Illumina to support rare disease gene discovery and diagnosis. AODL has consulted for Tome Biosciences and Ono Pharma USA Inc, and is member of the scientific advisory board for Congenica Inc and the Simons Foundation SPARK for Autism study. PBK has received research support from ML Bio and Sarepta Therapeutics, and has consulted for Lupin, Neurogene, NS Pharma, and Teneofour.
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