Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.R27Q
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DHH

NM_021044.4:p.R27Q

Associated Papers

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.

Bertucci F et al.

Journal of Translational Medicine, 2024

39465437 (PubMed )
Supplement: 12967_2024_5790_MOESM2_ESM.xlsx › Table_S2

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.

Ayers K et al.

Journal of Medical Genetics, 2019

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."