Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.E247fs
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HTRA1

NM_002775.5:p.E247fs

Associated Papers

Rational correction of pathogenic conformational defects in HTRA1.

Beaufort N et al.

Nature Communications, 2024

39013852 (PubMed )
Supplement: 41467_2024_49982_MOESM1_ESM.pdf

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.

Uemura M et al.

Frontiers in Neurology, 2020

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