[BMJ] Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome

Milen@18 Post time 2 hour(s) ago | Show all posts |Read mode
This post will be closed automatically in 2026-10-31 04:53
Reward10points

journalㄩJournal of Medical Genetics

AuthorsㄩNaoko Yano; Pin Fee Chong; Kenji K Kojima; Tomoichiro Miyoshi; Ahmad Luqman-Fatah; Yu Kimura; Kengo Kora; Taisei Kayaki; Kanako Maizuru; Takahiro Hayashi; Atsushi Yokoyama; Masahiko Ajiro; Masatoshi Hagiwara; Teruyuki Kondo; Ryutaro Kira; Junko Takita; Takeshi Yoshida

Published dateㄩ2024-10-

DOIㄩ10.1136/jmg-2024-110056

PDF linkㄩhttps://syndication.highwire.org ... 136/jmg-2024-110056

Article linkㄩhttps://doi.org/10.1136/jmg-2024-110056

Article SourceㄩBMJ﹝


Remarkㄩ
Reply

Use magic Donate Report

All Reply0 Show all posts

Reply

You have to log in before you can reply Login | Register

Points Rules

Junior Member
  • post

  • reply

  • points

    280


Daily Top Contributors

Return to the list