Varaico: Literature-Extracted Genetic Variants

Gene:SI
Variant:p.A599A
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SI

NM_001041.4:p.A599A

Associated Papers

Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Zhou J et al.

Frontiers in Pediatrics, 2021

34926337 (PubMed )
Supplement: Table_1.xls › Sheet1

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
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