Varaico: Literature-Extracted Genetic Variants

Gene:CTPS1
Variant:p.M283V
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CTPS1

NM_001905.4:p.M283V

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

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.

Miao Y et al.

Frontiers in Immunology, 2019

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