Anil Kanthi

Anil Kanthi

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Anil Kanthi

Anil Kanthi

Publications by authors named "Anil Kanthi"

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Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.

Eur J Med Genet 2019 Jun 22;62(6):103528. Epub 2018 Aug 22.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183027
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http://dx.doi.org/10.1016/j.ejmg.2018.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386622PMC
June 2019

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.

J Hum Genet 2018 Jul 25;63(8):935-939. Epub 2018 Apr 25.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1038/s10038-018-0462-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060014PMC
July 2018

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Am J Med Genet A 2018 01 17;176(1):156-160. Epub 2017 Nov 17.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38522DOI Listing
January 2018