c.1A>G, p.Met1Val
This paper is listed under the ClinVar citations for this variant, but only as a paper that references other variants in the initiator codon that have been observed in individuals with ABCA4-related conditions
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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We found statistically significant association for six variations (c.1268A>G, c.4203C>A, c.5603A>T, c.5682G>C, c.5843C>T, c.6249C>T) (FDR < 0.05, Supplementary Table S4)
This paper is listed under the ClinVar citations for this variant, but only as a paper that references other variants in the initiator codon that have been observed in individuals with ABCA4-related conditions. The actual initiator variant included in this paper is c.1A>G
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ABCA4
Unable to find this variant in the text or supplementary even though Mastermind says it's in supplemental MOESM1
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