Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.E277delFs
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HTRA1

NM_002775.5:p.E277delFs

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

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Coste T et al.

Brain : a Journal of Neurology, 2021

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