Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.Q50*
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SPRED1

NM_152594.3:p.Q50*

Associated Papers

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Sandoval-Talamantes AK et al.

Genes, 2023

38003033 (PubMed )
Supplement: genes-14-02091-s001.zip › genes-2581930-supplementary › Supplemental.pdf

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H et al.

The Keio Journal of Medicine, 2013

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