Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.E306K
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FMR1

NM_002024.6:p.E306K

Associated Papers

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Ravenscroft TA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34113007 (PubMed )
Supplement: NIHMS1717830-supplement-Supplementary_Information.docx
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