Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1L1
Variant:p.F347S
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ALDH1L1

NM_012190.4:p.F347S

Associated Papers

PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.

Fernandes PH et al.

Genetic Testing and Molecular Biomarkers, 2010

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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."