Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.E373*
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MMAA

NM_172250.3:p.E373*

Associated Papers

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Şeker Yılmaz B et al.

Turkish Journal of Medical Sciences, 2021

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