Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.V56fs
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MOCS2

NM_004531.5:p.V56fs

Associated Papers

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

Kinsinger M et al.

Bmc Medical Genomics, 2024

39695700 (PubMed )
Supplement: 12920_2024_2027_MOESM1_ESM.zip › Supplementary › Supplementary_Online_Only_Table_1_MOCS2_6.2.24.xlsx › all_cases
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