Varaico: Literature-Extracted Genetic Variants

Gene:NOXA1
Variant:p.E252_T253delFs
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NOXA1

NM_001256067.2:p.E252_T253delFs

Associated Papers

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

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Kleyner R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_2.xlsx › VAAST_results_38837_recessive.c
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