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In this investigation we implemented multiple computational methods to identify the most likely pathogenic mutations in TYRP1 gene.
However, another splice variant (c.1961_1963del) in patient RB24 as predicted as most likely pathogenic did not co-segregate with phenotype.
A filtering algorithm was applied to exclude all but the most likely pathogenic variants (Supplementary material), which were verified by PCR amplification and Sanger sequencing.
Using array-CGH, we have identified the first mutation affecting the regulatory region of GDF9 in a patient with SA, most likely pathogenic.
Considering only the most likely pathogenic variations (truncating, stop, and frameshift), a prevalence estimate of 9.6% of distinct EYS variants in the Spanish arRP population can be drawn.
We suggest that RA SF MDSCs are able to limit the expansion of joint-infiltrating (and most likely pathogenic) T cells.
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Insulin resistance (IR) is the most likely the pathogenic link between PCOS and MetS.
For example, a novel intronic variant (c.265-9 c.265-9in paTient RB4 creates a cryptic splice site and is most likely a pathogenic variant.
Of these, six mutations (G36R, H180Y, P182L, A237S, N372S and V406I) are most likely non-pathogenic [42].
Nonetheless, these three variants are most likely non-pathogenic, since they have been found both in cases and healthy controls (Tables 2 and 3).
Of special note are our results indicating that ATBF1 variants showing differences in the length of amino acid repeat sequences are most likely non-pathogenic and instead are normally occurring polymorphisms.
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