Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.G2169G
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SETX

NM_015046.7:p.G2169G

Associated Papers

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.

Ogonowski N et al.

Journal of Medical Genetics, 2023

Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.

Lee EB et al.

Acta Neuropathologica, 2017

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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