Varaico: Literature-Extracted Genetic Variants

Gene:KLHL7
Variant:p.R326*
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KLHL7

NM_001031710.3:p.R326*

Associated Papers

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

Makay P et al.

American Journal of Medical Genetics. Part A, 2022

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Jeffries L et al.

European Journal of Medical Genetics, 2019

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
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