Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Parneet Kaur; Rajagopal Kadavigere; Katta Mohan Girisha; Anju Shukla

doi:10.1093/brain/awaa046

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Parneet Kaur
, Rajagopal Kadavigere
, Katta Mohan Girisha
, Anju Shukla

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	e29
Journal	Brain : a journal of neurology
Volume	143
Issue number	4
DOIs	https://doi.org/10.1093/brain/awaa046
Publication status	Published - 01-03-2020

All Science Journal Classification (ASJC) codes

Clinical Neurology

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10.1093/brain/awaa046

Cite this

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title = "Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement",

author = "Parneet Kaur and Rajagopal Kadavigere and Girisha, \{Katta Mohan\} and Anju Shukla",

year = "2020",

month = mar,

day = "1",

doi = "10.1093/brain/awaa046",

language = "English",

volume = "143",

pages = "e29",

journal = "Brain : a journal of neurology",

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T1 - Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

AU - Kaur, Parneet

AU - Kadavigere, Rajagopal

AU - Girisha, Katta Mohan

AU - Shukla, Anju

PY - 2020/3/1

Y1 - 2020/3/1

UR - https://www.scopus.com/pages/publications/85088612077

UR - https://www.scopus.com/pages/publications/85088612077#tab=citedBy

U2 - 10.1093/brain/awaa046

DO - 10.1093/brain/awaa046

M3 - Letter

C2 - 32125366

AN - SCOPUS:85088612077

SN - 0006-8950

VL - 143

SP - e29

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

IS - 4

ER -

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

All Science Journal Classification (ASJC) codes

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