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Additional file 6 of Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Authors :
Mutai, Hideki
Momozawa, Yukihide
Kamatani, Yoichiro
Nakano, Atsuko
Sakamoto, Hirokazu
Takiguchi, Tetsuya
Nara, Kiyomitsu
Kubo, Michiaki
Matsunaga, Tatsuo
Publication Year :
2022
Publisher :
figshare, 2022.

Abstract

Additional file 6. Partial electropherograms of variants in known deafness genes detected in this study. Green, blue, black, and red peaks indicate nucleotides A, C, G, and T, respectively. Data were derived from probands from: (A) and (B), family 1470; (C), family 1540; (D) and (E), family 1479; (F), family 1688; (G) and (H), family 1644; (I), family 1528; (J) and (K), family 1397; (L), family 1597; (M), family 1648; (N) and (O), family 739; (P), family 1633; (Q), family 1543; (R), family 1631; (S), family 1583; (T), family 1651; (U), family 1636; (V) and (W), family 1456. Reverse complementary sequences are shown in (F), (M), (O), (R), and (T). Segregation of all variants in probands and their parents was validated by Sanger sequencing. Note that in (F), c.8969delG variant of MYO15A is based on right-normalized nomenclature and not c.8968-1delG as shown by electropherogram.

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....02a4c11da203b82c173274050f477c59
Full Text :
https://doi.org/10.6084/m9.figshare.19313504