Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1L1
Variant:p.L339R
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ALDH1L1

NM_012190.4:p.L339R

Associated Papers

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

Jackson M et al.

Prenatal Diagnosis, 2025

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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."