Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.H2457Y
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SETX

NM_015046.7:p.H2457Y

Associated Papers

GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.

Rački V et al.

Genes, 2024

38397244 (PubMed )
Supplement: genes-15-00255-s001.zip › genes-2872356-supplementary.pdf

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
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