Varaico: Literature-Extracted Genetic Variants

Gene:AMER2
Variant:p.S358L
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AMER2

NM_152704.4:p.S358L

Associated Papers

The mutational landscape and functional effects of noncoding ultraconserved elements in human cancers.

Bayraktar R et al.

Science Advances, 2025

39970212 (PubMed )
Supplement: sciadv.ado2830_tables_s1_s2_s4_s9_and_s12_to_s14.zip › ado2830_table_s14.xlsx › Sheet21

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
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