Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.I155F
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CHD1L

NM_004284.6:p.I155F

Associated Papers

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

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
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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."