Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.I765M
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CHD1L

NM_004284.6:p.I765M

Associated Papers

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M et al.

Nature Communications, 2019

31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY et al.

Kidney International, 2014

24429398 (PubMed )
Supplement: NIHMS543078-supplement-supplement_1.pdf

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).

Brockschmidt A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012

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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."