Varaico: Literature-Extracted Genetic Variants

Gene:TDRD7
Variant:p.L11L
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TDRD7

NM_014290.3:p.L11L

Associated Papers

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

Li S et al.

Bmc Medical Genetics, 2019

31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 2016

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