Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF33
Variant:p.Q106R
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PRAMEF33

NM_001291381.1:p.Q106R

Associated Papers

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_
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