Varaico: Literature-Extracted Genetic Variants

Gene:SRGAP2
Variant:p.R235H
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SRGAP2

NM_015326.5:p.R235H

Associated Papers

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Zhang C et al.

Genome Biology, 2019

31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1
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