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Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic Telangiectasia

ABSTRACT: Multiple Lesion-Specific Somatic Mutations and Bi-Allelic Loss of ACVRL1 in a single patient with Hereditary Haemorrhagic Telangiectasia

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo Sapiens

SUBMITTER: Odense University Hospital

PROVIDER: PRJEB96743 | EVA | 2025-08-31

REPOSITORIES: EVA

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Dataset's files

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			Action	DRS
	G142-1_twist-exom-v2_HGMGYDMXY-HMNFHDSX7_flt.vcf.csi	Other
	G142-1_twist-exom-v2_HGMGYDMXY-HMNFHDSX7_flt.vcf.gz	Vcf
	G142-1_twist-exom-v2_HGMGYDMXY-HMNFHDSX7_flt.vcf.gz.csi	Vcf
	G142-2_twist-exom-v2_HGMGYDMXY-HMNFHDSX7_flt.vcf.csi	Other
	G142-2_twist-exom-v2_HGMGYDMXY-HMNFHDSX7_flt.vcf.gz	Vcf

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