Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.I517M
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CHD1L

NM_004284.6:p.I517M

Associated Papers

Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

Narikot A et al.

Bmc Nephrology, 2022

34979951 (PubMed )
Supplement: 12882_2021_2628_MOESM2_ESM.xlsx › Table_S4

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

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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."