Varaico: Literature-Extracted Genetic Variants

Gene:MN1
Variant:p.Q304del1
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MN1

NM_002430.3:p.Q304del1

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

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

KRAS mutation in secondary malignant histiocytosis arising from low grade follicular lymphoma.

Choi SM et al.

Diagnostic Pathology, 2018

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