Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S105Splc
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CHM

NM_000390.4:p.S105Splc

Associated Papers

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.

Han X et al.

Retina (philadelphia, Pa.), 2020

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1
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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."