Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.A256_P257del0
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MMACHC

NM_015506.3:p.A256_P257del0

Associated Papers

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Fecarotta S et al.

Orphanet Journal of Rare Diseases, 2025

39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data
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