Varaico: Literature-Extracted Genetic Variants

Gene:FZR1
Variant:p.D187N
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FZR1

NM_016263.4:p.D187N

Associated Papers

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Manivannan SN et al.

Brain : a Journal of Neurology, 2022

Rb and FZR1/Cdh1 determine CDK4/6-cyclin D requirement in C. elegans and human cancer cells.

The I et al.

Nature Communications, 2015

25562820 (PubMed )
Supplement: ncomms6906-s1.pdf
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