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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: G1205A
cDNA Position: 3614 g→ c (exon 22)
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Disease | Genetics | Frequency | Reference |
Heterozygous w/ Retinitis pigmentosa, hearing loss, failure to thrive | (Wong et al., 2008) PubMed |