Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.Q37*
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SLC2A1

NM_006516.4:p.Q37*

Associated Papers

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Mellone S et al.

Frontiers in Genetics, 2022

36035117 (PubMed )
Supplement: Table2.pdf

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s1.pdf

GLUT1 deficiency syndrome into adulthood: a follow-up study.

Leen WG et al.

Journal of Neurology, 2014

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