Varaico: Literature-Extracted Genetic Variants

Gene:PHIP
Variant:p.Y1316*
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PHIP

NM_017934.7:p.Y1316*

Associated Papers

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Künzel R et al.

International Journal of Obesity (2005), 2025

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Vos N et al.

Human Genetics, 2024

38787418 (PubMed )
Supplement: 439_2024_2679_MOESM3_ESM.xlsx › S5_Prediction_scores

Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.

Sudnawa KK et al.

American Journal of Medical Genetics. Part A, 2024

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

Kampmeier A et al.

Frontiers in Cell and Developmental Biology, 2022

Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.

Jan M et al.

Blood Advances, 2019

31324640 (PubMed )
Supplement: baadv2019000445-suppl6.xlsx › Recurrent_Mutations_in_MN
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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."