Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.G102Splc
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SPR

NM_003124.5:p.G102Splc

Associated Papers

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › SPR_Short_Var_Pathogenetic

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Sanchis-Juan A et al.

Frontiers in Genetics, 2019

31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1
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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."