Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.L5089P
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MACF1

NM_001394062.1:p.L5089P

Associated Papers

Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.

Mi L et al.

Bmc Pediatrics, 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."