Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.P269L
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DHH

NM_021044.4:p.P269L

Associated Papers

Multimodule characterization of immune subgroups in intrahepatic cholangiocarcinoma reveals distinct therapeutic vulnerabilities.

Lin J et al.

Journal for Immunotherapy of Cancer, 2022

35863823 (PubMed )
Supplement: jitc-2022-004892supp008.xlsx › 1._WES_mutations

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

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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."