Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.S249L
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MMAA

NM_172250.3:p.S249L

Associated Papers

Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.

Pande S et al.

Molecular Genetics and Genomics : Mgg, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."