pathogenic variant - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/41543775/

Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant...

Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene

autosomal dominant pathogenic variant atrophy associated

https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1467882/full

Frontiers | Case report: Novel germline c.587delA pathogenic variant in familial multiple endocrine...

Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system.In MEN1, the ...

case report pathogenic variant frontiers novel germline

https://www.endocrine.org/journals/jcem-case-reports/adrenocortical-tumor-in-kcnj5-and-dna-methylation-of-cyp11b2

Adrenocortical Tumor Associated With Pathogenic Variant in KCNJ5 and DNA Methylation of CYP11B2 in...

The authors present a case of unilateral primary aldosteronism with pathogenic variants in KCNJ5 and suppressed CYP11B2 expression.

adrenocortical tumor pathogenic variant associated dna

https://pubmed.ncbi.nlm.nih.gov/32998193/

Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Given the enhanced discriminatory power of the mitochondrial DNA (mtDNA) genome (mitogenome) over the commonly sequenced control region (CR) portion, the...

pathogenic variant mitochondrial genome filtering haplotype reporting