Varaico: Literature-Extracted Genetic Variants

Gene:PHIP
Variant:p.Q1211fs
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PHIP

NM_017934.7:p.Q1211fs

Associated Papers

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

Kampmeier A et al.

Frontiers in Cell and Developmental Biology, 2022

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.

Kritioti E et al.

Plos One, 2021

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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."