Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.K433*
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EFCAB13

NM_152347.5:p.K433*

Associated Papers

Whole-Genome Landscape of Retinal Hemangioblastomas.

Bals K et al.

Translational Vision Science & Technology, 2026

41533848 (PubMed )
Supplement: tvst-15-1-5_s003.xlsx › Supplementary_Table_2

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Whole-exome sequencing of Finnish hereditary breast cancer families.

Määttä K et al.

European Journal of Human Genetics : Ejhg, 2016

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