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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYRK3

Variant:p.R248C

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DYRK3

NM_003582.4:p.R248C

hg38:chr1:206647940 C>T

Associated Papers

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

Chitty LS et al.

Prenatal Diagnosis, 2013

23408600 (PubMed )

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