Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.L204V
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SMPD1

NM_000543.5:p.L204V

Associated Papers

Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.

Yang X et al.

Prenatal Diagnosis, 2020

[Rapid genetic prenatal diagnosis for achondroplasia].

Zhu HY et al.

Zhonghua Fu Chan Ke Za Zhi, 2008

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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."