1Total number of mutations: EGFR, n = 1627; TP53, n = 2387. 2The number of singlets, doublets and multiplets in EGFR is 1526, 98 and 5, respectively 3The number of singlets, doublets and multiplets in

NIAID Data Ecosystem30

Additional file 5 of Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis

遗传性血色病

基因突变分析

Additional file 5. Table S4. Missense variants in genes associated with iron metabolism pathway identified in patients with primary iron overload by NGWES.

DataCite Commons2024-02-08 更新70

Clinical exome sequencing for Autosomal recessive bestrophinopathy

遗传性眼病

基因突变分析

Clinical exome sequencing results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy

NIAID Data Ecosystem40

Genes with multiple, independent, nonsynonymous acquired mutations.

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