Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.L75L
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MMACHC

NM_015506.3:p.L75L

Associated Papers

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W et al.

Journal of Assisted Reproduction and Genetics, 2024

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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