Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.E205E
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MATN3

NM_002381.5:p.E205E

Associated Papers

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.

Ho TT et al.

Bmc Musculoskeletal Disorders, 2020

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