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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRAT1

Variant:p.T224_G226del3

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BRAT1

NM_152743.4:p.T224_G226del3

hg38:chr7:2543714 GCCCGAAGGT>G

Associated Papers

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Engel C et al.

European Journal of Human Genetics : Ejhg, 2023

37344571 (PubMed )

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