Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet J Rare Dis · 2020 · PMC7507685 · PMID 32962750

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did not reach statistical significanceno p-value reported

In a previous study of genotype-phenotype correlation in HHT we observed a higher frequency of hepatic involvement in HHT2 patients compared to HHT1 patients; although the difference did not reach statistical significance [ 15 ], it was supported by other studies [ 16 , 26 ].

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highly significantno p-value reported

The association between this SNP and HAVM was still highly significant.

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