Varaico: Literature-Extracted Genetic Variants

Gene:KLK1
Variant:p.D135D
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KLK1

NM_002257.4:p.D135D

Associated Papers

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Soukarieh O et al.

Npj Genomic Medicine, 2023

37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Jungwirth G et al.

Acta Neuropathologica Communications, 2019

31470906 (PubMed )
Supplement: 40478_2019_793_MOESM1_ESM.xlsx › MPILEUP_SNP
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